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Distal muscular dystrophy with autosomal recessive inheritance
Author(s) -
Scoppetta Ciriaco,
Vaccario Maria Luigia,
Casali Carlo,
di Trapani Girolamo,
Mennuni Gioacchino
Publication year - 1984
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880070610
Subject(s) - muscular dystrophy , autosomal recessive inheritance , muscle biopsy , medicine , myopathy , electromyography , creatine kinase , anatomy , biopsy , biology , physical medicine and rehabilitation , genetics , gene
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.