Article
Congenital myopathy with focal loss of cross-striations revisited.
Neuromuscular disorders : NMD - 1 Feb 2013
Voermans N C, Jungbluth H, Aronica E, Monnier N, Lunardi J, Swash M, de Visser M
Abstract excerpt
In 1977 Wijngaarden et al. reported a Dutch family with a congenital myopathy characterized by external ophthalmoplegia and a remarkable histological feature, focal loss of cross-striations. A small number of other families with similar clinical and pathological features led to the consideration of this congenital myopathy as a distinct entity. Here we present more than 30years of follow-up from the Dutch family...
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