This report expands the known clinical phenotype of autosomal dominant centronuclear myopathy to include features mimicking facioscapulohumeral syndrome.
May expand centronuclear myopathy differentials in facioscapulohumeral mimics; hypothesis-generating for phenotypic spectrum.
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.
No takes yet. Share an insight, caveat, or question.
Felice et al. (1997) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: