Neuromusc. Disord., Vol. 3, No. 4, pp. 341-346, 1993 0960-8966/93 $6.00 + 0.00 Printed in Great Britain Pergamon Press Ltd

N E U R O M U S C U L A R DISORDERS: GENE LOCATION

Disease Mode of Gene Symbol§ MIMN Key inheritanceT location:[: (gene product) references¶

Muscular dystrophies Duchenne/Becker XR Xp21.2 DYS 310200

(dystrophin)

Emery-Dreifuss XR Xq28 EMD 310300

Facio-scapulo-humeral AD 4q35 FSHD 158900

Limb-girdle, recessive AR 15q LGMD2

Limb-girdle, dominant AD 5q LGMDI Severe childhood AR 13q 12 SCARMD autosomal recessive (50 kDa DAG)** muscular dystrophy (Duchenne-like) Congenital myopathies Myotubular myopathy XR Xq28 MTM 1

(or MTMX) Central core disease AD 19q 13.1 CCD Nemaline myopathy AD 1 q21-q23 NEM 1 Myotonic syndromes Myotonic dystrophy AD 19ql 3 DM (Steinert) (myotonin-protein

kinase )

Myotonia congenita, AD see under Ion channel muscle diseases dominant (Thomsen's disease)

Generalized myotonia, AR see under Ion channel muscle diseases recessive (Becker's disease)

Ion channel muscle diseases Myotonia congenita, AD 7q35 CLC-! dominant (muscle chloride (Thomsen's disease) channel)

Generalized myotonia, AR 7q35 CLC-i recessive (muscle chloride (Becker's disease) channel) Hyperkalaemic AD 17q 13.1- SCN4A periodic paralysis 13.3 (sodium channel

a-subunit gene) Paramyotonia AD 17q13.1- SCN4A congenita 13.3 (sodium channel

at-subunit gene)

Malignant AD 19q 13.1 MH hyperthermia (ryanodine receptor)

Metabolic myopathies Glycogenoses

Type II (Pompe) AR 17q23 Type V (McArdle) AR 11 q 13

Type VII (Tarui) AR lcenq32

Type IX XR Xql3

**Primary defect to be confirmed.

GAA (acid maltase) PYGM (muscle- type phosphorylase)

PFKM (mascle-type phosphofructokinase) PGKI (phosphoglycerate kinase )

253600

159000 253700

310400

117000 161800

160900

160800

255700

170500

168300

145600

232300 232600

232800

311800

Monaco et al. (1986) Burghes et al. (1987) Koenig et al. (1987, 1988) Hoffman et al. (1987, 1988) Hodgson et al. (1986) Romeo et al. (1988) Wijmenga et al. (1990) Upadhyaya et al. (1990, 1992) Wijmenga et aL (1991, 1992) Beckmann et aL (1992) Young et aL (1992) Speer et al. (I 992) Ben Othmane et al. (1992) Matsumura et al. (1992)

Thomas et al. (1987)

Kauseh et al. (1991) Laing et al. (1992)

Renwick et al. (1971) Friedrich et al. (1987) Harley et al. (1992) Buxton et al. (1992) Aslanidis et al. (1992) Mahadevan et al. (1992) Fu et al. (1992) Brook et al. (1992)

Koch et al. (1992b) George Jr et aL (1993)

Koch et aL (1992b)

Fontaine et al. (1990) Ptacek ~t al. (1991a) Rojas et al. (1991) Ebers et aL (1991) Koch et aL (1992a) McClatchey et al. (1992) Ptacek et aL (1991b) MacLennan et al. (1990) McCarthy et al. (1990) Fujii et al. (1991) Gillard et al. (1991, 1992)

Hers (1963) Mommaerts et al. (1959) Schmidt et al. (1959) Lebo et al. (1984) Tsujino et al. (1993a) Tarui et aL (1965) Vora et al. (1982) Nakajima et aL (1991) DiMauro et al. (1981a, 1983) Rosa et al. (1982)

Continued

341

342 Neuromuscu l a r Disorders: Gene Locati~)~l

Disease Mode of Gene Symbol§ M1MI Key inhe r i t ance t location,~ (gene product ) references *

TypeX AR 7p12-p13 PGAMM 261670 D i M a u r o e t a l (1981bl (must le Edwards et a/. (198 ~,~) pho.~phoglvcerate Castella-Escola el a~ 11990) mutose) Tsujino ct aL ( 1993bl

Type XI A R 1 I p 15.4 I,DHA 150000 Boone et a/. (1972) (lactate Kanno el al. ( 1980j dehydrogenase ) Notable ci af. t 1990)

Disorders of lipid metabolism Carnitine palmitoyl- transferase deficiency

AR Ipl l-p13 CPT2 255110 DiMauro and MelJs- (carnitine DiMauro 11973) palmit ovl- Finocchiaro et al. 1t991 ) trans/erose ) Minoletti et aL (1992)

Taroni ct al. (I 993i

Hereditary cardiomyopathies Familial hypertrophic cardiomyopathy

AD 14ql 1.2 FHCI 192600 Jarcho et al. (19891 = MYH6, MYH7 Solomon et al. 119911) (cardiac myosin Tanigawa et aL 11990) heaw-chain ct or fl) Geisterfer- Lowrance

et al. (1990) Familial hypertrophic AD tq3 FHC2 192600 Watkins et al. (19931 cardiomyopathy Familial hypertrophic AD t lp13-q13 FHC3 192600 Carrier et al. [ 1993} cardiomyopathy Neurogenic syndromes Hereditary ataxias

Friedreich ataxia A R 9cen-q21 FA Spinal cerebellar AD 6p23 SCA1 atrophy

Spinal cerebellar AD SCA2 atrophy (Cuban) Machado-Joseph AD MJD disease

Hereditary motor sensory neuropathies ( H M S N ) Hereditary AD 17pl 1.2 neuropathy with liability to pressure palsies Charcot-Marie-Tooth neuropathy

Type I (la) AD 17pl 1.2

229300 Chamberlain et al. 11988) 164400 Jackson et al. 11977)

Zoghbi et al. 0991) Orr et al. (1993)

12q23-24. I 164400 Auburger et al. (1990) Gispert et al. (1993)

14q24.3-q32 109150 Takiyama et aL (1993)

PMP-22 (peripheral myelin protein)

P M P - 2 2 (peripheral myelin protein )

Type I (lb) AD 1q21-23 CMTIB

Type II (axonal) AD I p35-p36 CMT2A

X-linked XD Xq 13 CMTX

Hereditary paraplegias Spastic paraplegia AD 14q FSP (Strumpen disease) Spastic paraplegia XR Xq27-q28 SPGI X-linked, complicated Spastic paraplegia XR Xq21 -q22 SPG2 X-linked, uncomplicated

Spinal muscular atrophy (SMA) Werdnig-Hoffman AR 5q I 1 -q 13 SMA

Kugelberg- AR 5q I 1 -q 13 SMA Welander

Familial amyotrophic AD 21 q22 lateral sclerosis

Kennedy disease XR Xq21-22

Familial amyloid AD 18q I 1.2- neuropathy q 12.1

ALS = S O D I ( Cu/Zn superoxide dismutase ) SBMA (androgen receptor) P A L B (prealbumin transthyretin )

162500 Chance el al. (1993)

118220

118200

118210

302800

182600

312900

312920

253300

253400

105400

313200

176300

Vance et al. (1989) Matsunami et al. (t 992) Patel et at. 11992) Timmerman et ol. (1990, 1992) Valentijn et al. 11992) Bird et al. (1982) Guiloffet al. (19821 Hentati et aL (1992) Ben Othmane et al. 11993) Gat et aL 11985)

Hazan et al. (1993)

Kenwrick el a/. 11986)

Keppen el aL 11987)

Gilliam et al. 11990) Melki el al. (1990b) Brzustowicz et al. (1990) Melki et al. (1990a) Siddique et aL (1991) Rosen et al. 11993)

Fischbeck et aL (1986) La Spada el al. (1991) Costa et at. (1978)

Continued

Neuromuscular Disorders: Gene Location 343

Disease Mode of Gene Symbol§ MIMII Key inheritancet location~: (gene product) references¶

Amyloidosis AD 1 Iq23-qter APOAI 107680 Nichols et al. (1989) type IV Iowa (apolipoprotein A 1) Amyloidosis type V AD 9q33 GSN 105120 Maury et al. (1990) Finnish (gelsoline) Adrenoleukodystrophy XL Xq28 ALD 300100 Aubourg et al. (1987)

Mosser et al. (1993)

Disease Genetic defect Mode of inheritance References

Mitochondrial myopathies see key references in Harding (1991) Zeviani and DiDonato

(1991) Wallace et al. (1991) Wallace (1992)

KSS single large sporadic deletions

MELAS point mutations maternal in tRNA (leu, ile)

MERRF point mutation maternal in tRNA (lys)

MM deletions maternal PEO deletions sporadic

Note to Gene Location Table KSS = Kearns-Sayres Syndrome (MIM 165100); MELAS = Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes

(MIM 251910); MERRF = Myoclonus Epilepsy with Ragged Red Fibers (MIM 254775); MM = Mitochondrial Myopathy (MIM 251900); PEO = Progressive External Ophthalmoplegia (MIM 165130).

t Inheritance: XR: sex-linked recessive; AD: autosomal dominant; AR: autosomal recessive. :~ Location: chromosomal assignment of the morbid locus, or of the gene when known. § Symbol: acronym of the locus or of the gene approved by the Nomenclature Committee of the Human Gene Mapping International

Workshops. Gene: when known the full name of the gene product is given in parentheses; for cloned genes the symbol is printed in bold. II MIM: reference number in McKusick V A. Mendelian Inheritance in Man. Catalogs of Autosomal Dominant,/lutosomal Recessive, and X-

linked Phenotypes, 10th Edn. Baltimore: Johns Hopkins University Press, 1992. ¶1 Key references: see list below. This table has been prepared by Jean-Claude Kaplan and Bertrand Fontaine.

REFERENCES

Aslanidis C, Jansen G, Amemiya C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 1992; 355:548-551.

Aubourg P R, Sack G H, Meyers D A, Lease J J, Moser H N. Linkage of adrenoleukodystrophy to a polymorphic DNA probe. Ann Neurol 1987; 21: 349-352.

Auburger G, Orozco Diaz G, Ferreira C, et al. Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population. A m J H u m Genet 1990; 46:1163-I 177.

Beckmann J S, Richard I, HiUaire D, et al. A gene for limb- girdle muscular dystrophy maps to chromosome 15 by linkage. C R A c a d Sci Paris 1991; 312: series III, 141-148.

Ben Othmane K, Ben Hamida M, Pericak-Vance M, et al.

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nature Genet 1992; 2: 315-317.

Ben Othmane K, Middleton L T, Loprest L J, et al. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome lp and evidence of genetic heterogeneity. Genomics 1993; 17: 370-375.

Bird T D, Ott J, Giblett E R. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1 (abstract). A m J H u m Genet 1982; 32: 99.

Boone C M, Chen T R, Ruddle F H. Assignment of three human genes to chromosomes (LDH-A to 1 !, TK to 17, and IDH to 20) and evidence for translocation between

human and mouse chromosomes in somatic cell hybrids. Proc Na i l A c a d Sci USA 1972; 69: 510-514.

Brook J D, McCurrach M E, Harley H G, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 1992; 611: 799-808.

Brzustowicz L M, Lehner T, Castilla L H, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5qli.2-13.3. Nature 1990; 344: 540-541.

Burghes A H M, Logan C, Hu X, Belfall B, Worton R G, Ray P N. A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature 1987; 328: 434-437.

Buxton J, Shelbourne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992; 355: 547-548.

Carrier L, Hengstenberg C, Beckmann J S, et al. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 1 I. Nature Genet 1993; 4:311-313.

Castella-Escola J, Mattei M G, Ojcius D M, et al. In situ mapping of the muscle-specific form of phosphoglycerate mutase gene to human chromosome 7p12-7p13. Hum Genet 1990; 84: 210-212.

Chamberlain S, Shaw J, Rowland A, et al. Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 1988; 334: 248-250.

Chance P F, Alderson M K, Leppig K A, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993; 72: 143-151.

Costa P P, Figueira A S, Bravo F R. Amyloid fibril protein

344 Neuromuscular Disorders: Gene Location

related to prealbumin in familial amyloidotic polyneuropathy. Proc Natl Acad Sci USA 1978; 75:4499 4503.

DiMauro S, Dalakas M, Miranda A F. Phosphoglycerate kinase deficiency: a new cause of recurrent myoglobinuria. Trans Am Neurol Assoc 1981a; 106: 202-205.

DiMauro S, Dalakas M, Miranda A F. Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. Ann Neurol 1983; 13:11-19.

DiMauro S, Melis-DiMauro P. Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science 1973; 182: 929-931.

DiMauro S, Miranda A F, Khan S, et al. Human phosphoglycerate mutase deficiency: a newly discovered metabolic myopathy. Science 1981b; 212: 1277-1279.

Ebers G C, George A L, Barchi R L, et al. Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene. Ann Neuro11991; 30: 810-816.

Edwards Y, Sakoda S, Schon E A. The gene for human muscle-specific phosphoglycerate mutase, PGAMM, mapped to chromosome 7 by polymerase chain reaction. Genomics 1989; 5:948-95 l.

Finocchiaro G, Taroni F, Rocchi M, et al. cDNA cloning, sequence analysis, and chromosome localization of the gene for human carnitine palmitoyltransferase. Proc Natl AcadSci USA 1991; 88: 661-665.

Fischbeck K H, Ionasescu V, Ritter A W, et al. Localization of the gene for X-linked spinal muscular atrophy. Neurology 1986; 36:1595-1598.

Fontaine B, Khurana T S, Hoffman E P, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel et- subunit gene. Science 1990; 250: 1000-1002.

Friedrich U, Brunner H, Smeets D, Lambermon E, Ropers H H. Three-point linkage analysis employing C3 and 19cen markers assign the myotonic dystrophy gene to 19q. Hum Genet 1987; 75: 291-293.

Fu Y H, Pizzutti A, Fenwick R G Jr, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992; 255: 1256-1260.

Fujii J, Otsu K, Zorzato F, et al. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science 1991; 253: 448-451.

Gal A, Mucke J, Theile H, Wieacker P, Ropers H, Wienker T. X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq. Hum Genet 1985; 70: 38-42.

Geisterfer-Lowrance A A T, Kass S, Tanigawa G, et al. A molecular basis for familial hypertrophic eardiomyopathy: a 13 cardiac myosin heavy chain gene missense mutation. Cell 1990; 62: 999-1006.

George A L Jr, Crackower M A, Abdalla J A, Hudson A J, Ebers G C. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nature Genet

1993; 3: 305-310. Gillard E, Otsu K, Fujii J, et al. A substitution ofcysteine for

arginine in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics 1991; 11: 751-755.

Gillard E, Otsu K, Fujii J, et al. Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics 1992; 13: 1247-1254.

Gilliam T C, Brzustowicz L M, Castilla L H, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990; 345: 823-825.

Gispert S, Twells R, Orozco G, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1 Nature Genet 1993; 4: 295-299.

Guiloff R J, Thomas P K, Contreras M, Armitage S, Schwarz G, Sedgwick E M. Evidence for linkage of type 1 hereditary motor and sensory neuropathy to the DuffS' locus on chromosome 1. Ann Hum Genet 1982: 46:25 27.

Harding A E. Neurologic disease and mitochondrial genes. Trends Neurol Sci 1991; 14:132-138.

Harley H G, Brook J D, Rundle S A, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992; 355: 545-546.

Hazan J, Lamy C, Melki J, et al. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14. Nature Genet 1993" (in press).

Hentati A, Lamy C, Melki J, et aL Clinical and genetic heterogeneity of Charcot Marie-Tooth disease. Genomics

1992; 12: 155-157. Hers H. Alpha-glucosidase deficiency in generalized glycogen

storage disease. Bioehem J 1963; 86: l 1--16. Hodgson S V, Boswinkel E, Walker A, et al. Linkage analysis

using nine DNA polymorphisms along the length of the X chromosome locates the gene for Emery-Dreifuss muscular dystrophy to distal Xq (abstract). J Med Genet 1986; 23: 169-170.

Hoffman E P, Brown R H Jr, Kunkel L M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987: 51: 919-928.

Hoffman E P, Fischbeck K H, Brown R H, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 1988; 318:1363-1368:

Jackson J, Currier R, Terasaki P, Pi T, Morton N: Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. N Engl J Med 1977; 296:1138-=1141.

Jarcho J A, McKenna W, Pare J A P, et al. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14ql. N Engl J Med 1989; 321: 1372-1378.

Kanno T, Sudo K, Takeuchi I, et al. Hereditary deficiency of lactate dehydrogenase M-subunit. Clin Chim Acta 1980; 108: 267-276.

Kauseh K, Lehmann-Horn F, Janka M, Wieringa B, Grimm T, Miiller C. Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomk's 1991; 10: 765-769.

Kenwrick S, Ionasescu V, Ionasescu G, et al. Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet 1986; 73: 264-266.

Keppen L D, Leppert M F, O'Connell P, et al. Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987; 41: 933-943.

Koch M, Ricker K, Otto M, et al. Linkage data suggesting alletic heterogeneity for paramyotonia congenita and hyperkalaemic periodic paralysis on chromosome 17. Hum Genet 1992a; 88: 71-74.

Koch M, Steinmeyer K, Lorenz C, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992b; 257: 797-800.

Koenig M, Hoffman E P, Bertelson C J, Monaco A, Feener C, Kunkel L. Complete cloning of the Duchenne muscular dystrophy (DMD) eDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987; 50: 509 5[7.

Neuromuscular Disorders: Gene Location 345

Koenig M, Monaco A P, Kunkel L M. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1988; 53: 219-228.

La Spada A R, Wilson E M, Lubahn D B, Harding A E, Fischbeck K H. Androgen receptor gene mutations in X- linked spinal and bulbar muscular atrophy. Nature 1991; 352: 77.

Laing N, Majda B, Akkari P, et al. Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome 1. Am J H u m Genet 1992; 50: 576-583.

Lebo R V, Gorin F, Fletterick R J, et al. High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11. Science 1984; 225: 57-59.

MacLennan D H, Duff C, Zorzato F, et al. Ryanodine receptor gene is a candidate for predisposition to malig- nant hyperthermia. Nature 1990; 343: 559-561.

Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 1992; 255:1253-1255.

Matsumura K, Tom6 F M S, Collin H, et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe child- hood autosomal recessive muscular dystrophy. Nature 1992; 359: 320-322.

Matsunami N, Smith B, BaUard L, et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth IA. Nature Genet 1992; 1: 176--179.

Maury C P J, Alli K, Baumann M. Finnish hereditary amyloidosis: amino-acid sequence homology between the amyloid fibril protein and human plasma gelsolin. FEBS Lett 1990; 280: 85-87.

McCarthy T V, Healy J M S, Heffron J J A, et al. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q 12-13. Nature 1990; 343: 562-564.

McClatchey A I, Van den Berg P, Pericak-Vance M A, et al. Temperature-sensitive mutations in the II-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 1992; 68: 769-774.

Melki J, Abdelhak S, Sheth P, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990a; 344: 767-768.

Melki J, Sheth P, Abdelhak S, et al. Mapping of acute (type 1) spinal muscular atrophy to chromosome 5q 12-q 14. Lancet 1990b; 336:271-273.

Minoletti F, et al. Localization of the human gene for carnitine palmitoyltransferase to lpl3-pl l by non- radioactive in situ hybridization. Genomics 1992; 13:1372- 1374.

Mommaerts W F H M, Illingworth B, Pearson C M, Cuillory R J, Seraydarian K. A functional disorder of muscle associated with the absence of phosphorylase. Proc Natl Acad Sci USA 1959; 45: 791-793.

Monaco A P, Neve R, Colletti-Feener C, Berteison C J, Kurnit M, Kunkel L M. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 1986; 323: 6464550.

Mosser J, Douar A M, Sarde C O, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993; 361: 726-730.

Nakajima H, Kono N, Yamasaki T, et aL Genetic defect in muscle phosphofructokinase deficiency. J Biol Chem 1991; 265: 9292-9295.

Nichols W C, Gregg R E, Brewer H B, Benson M D. Characterization of the gene for familial amyloidotic polyneuropathy (FAP Ill/Iowa) and genotyping by allele- specific PCR. Am J Hum Genet 1989; 45: A210.

Orr H T, Chung M Y, Banff S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 1993; 4: 221-226.

Patel P, Roa B, Welcher A, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie- Tooth disease type 1A. Nature Genet 1992; 1: 159--165.

Ptacek L J, George A L Jr, Griggs R, et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991a; 67: 1021-1027.

Ptacek L J, Trimmer J S, Agnew W S, Roberts J, Petajan J, Leppert M. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium channel gene locus. Am J Hum Genet 1991b; 49:851-854.

Renwick J H, Bundey S E, Ferguson-Smith M A, Izatt M M. Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion. J Med Genet 1971; 8: 407-416.

Rojas C V, Wang J, Schwartz L S, et al. A Met-to-Val mutation in the skeletal muscle Na ÷ channel ct-subunit in hyperkalaemic periodic paralysis. Nature 1991; 354: 387- 389.

Romeo G, Roncuzzi L, Sangiorgi S, et al. Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees. Hum Genet 1988; 80: 59-62.

Rosa R., George C, Fardeau M, et al. A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. Blood 1982; 106: 202-205.

Rosen D R, Siddique T, Patterson D, et al. Mutations in Cu/ Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993; 362: 59-62.

Schmidt R, Mahler R. Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J Clin Invest 1959; 38: 2044--2058.

Scrable H J, Johnson D K, Rinchik E M, Cavenee W K. Rhabdomyosarcoma-associated locus and MYODI are syntenic but separate loci on the short arm of human chromosome 11. Proc Natl Acad Sci USA 1990; 87: 2182- 2186.

Siddique T, Figlewicz D A, Pericak-Vanee M A, et al. Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med 1991; 324:1381-1384.

Solomon S D, Geisterfer-Lowrance A A T, Vosberg H P, et al. A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at ql 1-q12. Am J Hum Genet 1990; 47: 389-394.

Speer M C, Yamaoka L H, Gilchrist J H, et al. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet 1992; 50:1211-1217.

Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet 1993; 4: 300-304.

Tanigawa G, Jarcho J A, Kass S, et al. A molecular basis for familial hypertrophic cardiomyopathy: an a/b cardiac myosin heavy chain hybrid gene. Cell 1990; 62: 991-998.

Taroni F, Verderio E, Dworzak R, et al. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nature Genet 1993; 4: 314-319.

Tarui S, Okuno G, Ikura Y, Tanaka T, Suda M, Nishikawa M. Phosphofructokinase deficiency in skeletal muscle; a new type of glycogenosis. Biochem Biophys Res Commun 1965; 19: 517-523.

Thomas N, Sarfarazi M, Roberts K, et al. X-linked

346 Neuromuscular Disorders: Gene Location

myotubular myopathy (MTMI): evidence for linkage to Xq28 DNA markers (abstract). Cytagenet Cell Genet 1987: 46: 704.

Timmerman V, Nelis E, Van Hul W, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type I A duplication. Nature Genet 1992~ 1: 171-175.

Timmerman V, Raeymakers P, De Jonghe P e t al. Assignment of the Charcot-Marie-Tooth neuropathy type I (CMTIa) gene to chromosome 17pl 1.2. Am J Hum Genet 1990; 47: 680-685.

Tsujino S, Shanske S, DiMauro S. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Eng J Med 1993a~ 3:29:241-245.

Tsujino S, Shanske S, Sakoda S, et al. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am J Hum Genet 1993b; 52: 472M77.

Upadhyaya M, Lunt P W, Sarfarazi M, et al. DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease. Lancet 1990; 336: 1320-1321.

Upadhyaya M, Lunt P, Sarfarazi M, et al. The mapping of chromosome 4q markers in relation to facio- scapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 1992; 51: 404-410.

Valentijn L, Bolhuis P, Zorn I, et al. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie- Tooth disease type IA. Nature Genet 1992; I: 166-170.

Vance J, Nicholson G, Yamaoka L, et al. Linkage of Charcot-Marie-Tooth neuropathy type la to chromo- some 17. Exp Neuro11989; 104: 186-189.

Vora S, Durham S, de Martinville B, et al. Assignment of the human gene for muscle-type phosphofructokinase (PFKM) to chromosome 1 (region cen-q32) using somatic

cell hybrids and monoclonal anti-M antibody. 5,,mat c ell Genet 1982; 8: 95-104.

Wallace D C. Diseases of the mitochondrial DNA. Omu Re; Biochem 1992: 61: 1175-1212.

Wallace D C, Lott M, Tortoni A, Schoffner J. Report of thc committee on human mitochondrial DNA. Cvtogenet (-'eft Genet 1991; 58:1103. 1123.

Watkins H, MacRae C, Thierfelder L, et al. A disease locus for familial hypertrophic cardiomyopathy maps to chromosome lq3, Nature Genet 1993; 3:333 337

Wijmenga C, Frants R R, Brouwer O F, Moerer P, Weber J, Padberg G. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 1990: 336:651 653.

Wijmenga C, Hewitt J, Sandkuijl L, et al. Chromosome 4q DNA rearrangements associated with facio- scapulohumeral muscular dystrophy. Nature Genet 1992: 2: 26-30.

Wijmenga C, Padberg G, Moerer P, et al. Mapping of facioscapulohumeral muscular dystrophy gene to chomosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Genomies 1991;9: 570-575.

Young K, Foroud T, Williams P, et al. Confirmation of linkage of limb-girdle muscular dystrophy, type 2: to chromosome 15. Genomics 1992; 13:1370.

Zeviani M, DiDonato S. Neurological disorders due to mutations of the mitochondrial genome. Neuromusc Disord 1991; 1: 165-172.

Zoghbi H, Jodice C, Sandkuijl L, et al. The gene for autosomal dominant spinocerebellar ataxia (SCAI) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet 1991 ; 49: 23-30.