Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6041638 | Neuromuscular Disorders | 2013 | 5 Pages |
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 30Â years 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.
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Authors
N.C. Voermans, H. Jungbluth, E. Aronica, N. Monnier, J. Lunardi, M. Swash, M. de Visser,