✦ LIBER ✦
Autosomal dominant centronuclear myopathy: Report of a new family with clinical features simulating facioscapulohumeral syndrome
✍ Scribed by Kevin J. Felice; Margaret L. Grunnet
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 304 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0148-639X
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✦ Synopsis
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.