Proximal myotonic myopathy: A report of a kindred

Journal of Clinical Neuroscience

Volumn 5, Issue 2, 1998, Pages 218-220

  Nestor, Peter ^a   Dennett, Xenia ^b   Day, Bruce ^a  

^a Rheumatology Unit   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Myopathy; Myotonia; PROMM

Indexed keywords

EID: 0005488328     PISSN: 09675868     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0967-5868(98)90043-1     Document Type: Article

References (10)

1. 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.
2. Fu Y-H, Pizzuti A, Fenwick RG et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992; 255: 1256-1258.
3. Harley HG, Brook JD, Rundle SA et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992; 355: 545-546.
4. 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.
5. Ricker K, Koch MC, Lehmann-Horn F et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness and cataracts. Neurology 1994; 44: 1448-1452.
6. Ricker K, Koch MC, Lehmann-Horn F et al. Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 1995; 52: 25-31.
7. Stoll G, von Giesen H-J, Koch MC, Arendt G, Benecke R. Proximal myotonic myopathy syndrome in the absence of trinucleotide repeat expansions. Muscle Nerve 1995; 18: 782-783.
8. Thornton CA, Griggs RC, Moxley RT III. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 1994; 35: 269-272.
9. Engel AG, Franzini-Armstrong C. Myology, 2nd edn. New York: McGraw-Hill, 1994: 1201.
10. Gros D, Harnden P, Pouget J, Pellisier JF, Gastaut JL, Serratrice G. Peripheral neuropathy in myotonic dystrophy: a nerve biopsy study. Ann Neurol 1988; 23: 470-476.