Proximal myotonic myopathy: a report of a kindred

We describe a family with an autosomal dominant myotonic myopathy with absence of the abnormal CTG expansion characteristic of myotonic dystrophy. We believe that the findings in this family concur with those of recent case reports which have postulated the existence of a new adult onset myotonic di...

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Bibliographic Details
Published in:Journal of clinical neuroscience 1998-04, Vol.5 (2), p.218-220
Main Authors: Nestor, Peter, Dennett, Xenia, Day, Bruce
Format: Article
Language:English
Subjects:
Biological and medical sciences
Diseases of striated muscles. Neuromuscular diseases
Medical sciences
myopathy
myotonia
Neurology
PROMM
Tropical medicine
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Description
Summary:We describe a family with an autosomal dominant myotonic myopathy with absence of the abnormal CTG expansion characteristic of myotonic dystrophy. We believe that the findings in this family concur with those of recent case reports which have postulated the existence of a new adult onset myotonic disorder, distinct from myotonic dystrophy: ‘proximal myotonic myopathy’.
ISSN:0967-5868
1532-2653
DOI:10.1016/S0967-5868(98)90043-1