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Neuromuscul Disord. 2013 Feb;23(2):160-4. doi: 10.1016/j.nmd.2012.08.010. Epub 2012 Nov 3.

Congenital myopathy with focal loss of cross-striations revisited.

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1
Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands. n.voermans@neuro.umcn.nl

Abstract

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 and report recently identified compound heterozygous mutations in the skeletal muscle ryanodine receptor (RYR1) gene, c.10627-2A>G and p.Arg3539His (c.10616G>A). Focal loss of cross-striations on muscle biopsy is another histopathological feature that should raise the possibility of RYR1 involvement.

PMID:
23127960
DOI:
10.1016/j.nmd.2012.08.010
[Indexed for MEDLINE]
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