Article
Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.
European journal of neurology - 1 Jun 2018
Nilipour Y, Nafissi S, Tjust A E, Ravenscroft G, Hossein Nejad Nedai H, Taylor R L, Varasteh V, Pedrosa Domellöf F, Zangi M, Tonekaboni S H, Olivé M, Kiiski K, Sagath L, Davis M R, Laing N G, Tajsharghi H
Abstract excerpt
BACKGROUND AND PURPOSE: Nemaline myopathy (NEM) has been associated with mutations in 12 genes to date. However, for some patients diagnosed with NEM, definitive mutations are not identified in the known genes, suggesting that there are other genes involved. This study describes compound heterozygosity for rare variants in ryanodine receptor type 3 (RYR3) gene in one such patient. METHODS AND RESULTS: Clinical...
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