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Autosomal dominant centronuclear myopathy: Report of a new family with clinical features simulating facioscapulohumeral syndrome
Author(s) -
Felice Kevin J.,
Grunnet Margaret L.
Publication year - 1997
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/(sici)1097-4598(199709)20:9<1194::aid-mus19>3.0.co;2-t
Subject(s) - facioscapulohumeral muscular dystrophy , myopathy , genetic heterogeneity , medicine , muscle biopsy , inheritance (genetic algorithm) , pathology , genetics , biopsy , biology , gene , phenotype , muscular dystrophy
The centronuclear myopathies are a clinically and genetically heterogeneous group of disorders which share similar histological features on muscle biopsy. The familial cases have been classified genetically as X‐linked or autosomal in inheritance. The autosomal forms usually have a later onset and milder course as compared to the X‐linked form. Thirteen families with autosomal dominant centronuclear myopathy have been previously described. We describe an additional family with unique clinical features which initially suggested a facioscapulohumeral syndrome. © 1997 John Wiley & Sons, Inc. Muscle Nerve 20:1194–1196, 1997