AUTOSOMAL-DOMINANT CENTRONUCLEAR MYOPATHY - REPORT OF A NEW FAMILY WITH CLINICAL-FEATURES SIMULATING FACIOSCAPULOHUMERAL SYNDROME

Citation
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
Citations number
18
Categorie Soggetti
Neurosciences
Journal title
ISSN journal
0148639X
Volume
20
Issue
9
Year of publication
1997
Pages
1194 - 1196
Database
ISI
SICI code
0148-639X(1997)20:9<1194:ACM-RO>2.0.ZU;2-F
Abstract
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.