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An autosomal dominant early adult‐onset distal muscular dystrophy
Author(s) -
Zimprich Fritz,
Djamshidian Atbin,
Hainfellner Johannes A.,
Budka Herbert,
Zeitlhofer Josef
Publication year - 2000
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 - 10.1002/1097-4598(200012)23:12<1876::aid-mus13>3.0.co;2-a
Subject(s) - muscular dystrophy , myopathy , medicine , anatomy , histopathology , weakness , pathology
In this study we describe an autosomal dominant distal muscular dystrophy in a small Austrian family. The myopathy started in early adulthood with a slowly progressive weakness of the muscles of the anterior tibial compartment, followed by the long finger extensors and sternocleidomastoids in some family members. Other muscles were spared. Histopathology showed fiber size variation and autophagic vacuoles. This disease pattern is similar to Laing distal myopathy, which has been described previously in only one other family. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 1876–1879, 2000