Distal muscular dystrophy with autosomal recessive inheritance.

Abstract:

:Two sisters presented with distal weakness and their muscle biopsy was dystrophic. This distal muscular dystrophy has an autosomal recessive inheritance and its features are somewhat different from the more common autosomal dominant distal muscular dystrophy and include: a) onset in early adult life; b) involvement of distal leg muscles and especially peroneal muscles; c) marked early elevation of serum creatine kinase (CK); d) brief duration, small amplitude motor units and fibrillation on electromyography; and e) histologic features of a dystrophic myopathy.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Scoppetta C,Vaccario ML,Casali C,Di Trapani G,Mennuni G

doi

10.1002/mus.880070610

subject

Has Abstract

pub_date

1984-07-01 00:00:00

pages

478-81

issue

6

eissn

0148-639X

issn

1097-4598

journal_volume

7

pub_type

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