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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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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container_title Journal of clinical neuroscience
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creator Nestor, Peter
Dennett, Xenia
Day, Bruce
description 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’.
doi_str_mv 10.1016/S0967-5868(98)90043-1
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source ScienceDirect Freedom Collection 2022-2024
subjects Biological and medical sciences
Diseases of striated muscles. Neuromuscular diseases
Medical sciences
myopathy
myotonia
Neurology
PROMM
Tropical medicine
title Proximal myotonic myopathy: a report of a kindred
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