Proximal myotonic myopathy: Mini-review of a recently delineated clinical disorder

Neuromuscular Disorders

Volumn 6, Issue 2, 1996, Pages 87-93

  Moxley III, Richard T ^a  

^a UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

Author keywords

Cataracts; Myopathy; Myotonia; Myotonic dystrophy; Myotonic dystrophy gene

Indexed keywords

CHLORIDE CHANNEL; MUSCLE RELAXANT AGENT; NONSTEROID ANTIINFLAMMATORY AGENT; SODIUM CHANNEL;

CATARACT; DOMINANT INHERITANCE; GENE LOCUS; HUMAN; MUSCLE WEAKNESS; MYALGIA; MYOTONIA; MYOTONIC DYSTROPHY; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; THIGH;

EID: 0029976445     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/0960-8966(95)00036-4     Document Type: Article

References (27)

1. Brook J D, McCurrach M E, Harley G H, et al. Molecular basis of myotonic dystrophy: expansion of a tinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992; 68: 799-808.
2. Fu Y H, Pizzuti A, Fenwick R G Jr, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992; 225: 1256-1258.
3. 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; 225: 1253-1255.
4. + channel α-subunit in hyperkalemic periodic paralysis. Nature 1991; 354: 387-389.
5. Ptacek L J, George A L, Griggs R C, et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991; 67: 1021-1027.
6. Wang J, Zhou J, Todorovic S M, et al. Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene. Am J Hum Genet 1993; 52: 1074-1084.
7. Ptacek L J, Johnson K J, Griggs R C. Genetics and physiology of the myotonic muscle disorders. N Engl J Med 1993; 328: 482-489.
8. Lerche H, Heine R, Pika U, et al. Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine withing the III-IV linker. J Phsyiol 1993; 470: 13-22.
9. Rüdel R, Lehmann-Horn F, Ricker K. Altered excitability of the muscle cell membrane. The nondystrophic myotonias. In: Engel A G, Franzini-Armstrong C, eds. Myology New York: McGraw-Hill, 1994: 1291-1302.
10. Plassart E, Reboul J, Rime C S, et al. Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstrations of the predominance of two mutations. Eur J Hum Genet 1994; 2: 110-124.
11. Ptacek L J, Tawil R, Griggs R C, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology 1994; 44: 1500-1503.
12. Ricker K W, Moxley R T, Heine R, Lehmann-Horn F. Myotonia fluctuans. A third type of muscle sodium channel disease. Arch Neurol 1994; 51: 1095-1102.
13. George A L, Crackower M A, Abdalla J A, et al. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nature Genet 1993; 3: 305-310.
14. Koch M C, Ricker K, Otto M, et al. Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker). J Med Genet 1993; 30: 914-917.
15. Thornton C A, Griggs R C, Moxley R T. Myotonic dystrophy with no trinucleotide repeat expansion. Annals of Neurology 1994; 35: 269-272.
16. Ricker K, Koch M C, Lehmann-Horn F, et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994; 44: 1448-1452.
17. Ricker K, Koch M C, Lehmann-Horn F, et al. Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 1995; 52: 25-31.
18. Shelbourne P, Davis J, Buxton J, et al. Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker. N Engl J Med 1993; 328: 471-475.
19. Lacomis D, Chad D A, Smith T W. Proximal weakness as the primary manifestation of myotonic dystrophy in older adults. Muscle & Nerve 1994; 17: 687-688.
20. Moxley R T III, Ricker K. Proximal myotonic myopathy. Muscle & Nerve 1995: 18: 557-558.
21. Ashizawa T, Hejtmancik T F, Liu J, Perryman M B, Epstein H F, Koch D D. Diagonostic value of ophthalmologic findings in myotonic dystrophy. Am J Med Genet 1992; 142: 155-60.
22. Harper P S. Myotonic Dystrophy. 1989: 2nd ed. London: Saunders.
23. Moxley III R T. Myotonic muscular dystrophy. In: Rowland L P, ed. Handbook of Clinical Neurology Vol. 18, Elsevier Sci Pub., 1992: 209-259.
24. - conductance in resealed muscle fibre segments from patients with myotonic dystrophy. J Physiol 1990; 425: 391-405.
25. Koch M C, Steinmeyer K, Lorenz C, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992; 257: 797.
26. Lipicky R J, Bryant S H. A biophysical study of the human myotonias. In: Desmedt J E ed. New Developments in Electromyography and Clinical Neurophysiology Basel, Switzerland: S Karger 1973: 451-463.
27. Trudell R G, Kaiser K K, Griggs R C. Acetazolamide responsive myotonia congenita. Neurology 1987; 37: 488-491.