Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

Volume: 25, Issue: 6, Pages: 841 - 847
Published: Mar 26, 2018
Abstract
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 examination of the patient at 22...
Paper Details
Title
Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies
Published Date
Mar 26, 2018
Volume
25
Issue
6
Pages
841 - 847
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