This deletion was inherited from his unaffected father and was carried by his younger sister with EOPD. Whole exome sequencing (WES) identified a novel monoallelic frameshift deletion mutation ( dysferlin: c.4404delC/p.I1469Sfs ∗17) in the Dysferlin gene in the index patient who suffered from MMD. Methods and Results: In this study, we report an family with two siblings exhibiting two different NMD, Miyoshi muscular dystrophy (MMD) and early onset primary dystonia (EOPD). Due to advances in high-throughput sequencing technologies, the diagnosis of hereditary NMDs has dramatically improved in recent years.
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