Kj. Felice et Ml. Grunnet, AUTOSOMAL-DOMINANT CENTRONUCLEAR MYOPATHY - REPORT OF A NEW FAMILY WITH CLINICAL-FEATURES SIMULATING FACIOSCAPULOHUMERAL SYNDROME, Muscle & nerve, 20(9), 1997, pp. 1194-1196
The centronuclear myopathies are a clinically and genetically heteroge
neous group of disorders which share similar histological features on
muscle biopsy. The familiar 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. Thi
rteen families with autosomal dominant centronuclear myopathy have bee
n previously described. We describe an additional family with unique c
linical features which initially suggested a facioscapulohumeral syndr
ome. (C) 1997 John Wiley & Sons, Inc.