Article
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
Neurology - 27 Dec 2005
Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb S A, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry C A, Müller C, Muntoni F
Abstract excerpt
BACKGROUND: Minicore myopathy (multi-minicore disease [MmD]) is a congenital myopathy characterized by multifocal areas with loss of oxidative activity on muscle biopsy. MmD is clinically heterogeneous and distinct phenotypes have been associated with recessive mutations in either the selenoprotein N (SEPN1) or the skeletal muscle ryanodine receptor (RYR1) gene, also implicated in central core disease and...
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