Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)

Dysferlinopathy is an uncommon, progressive muscular dystrophy that has a wide phenotypic variability and primarily supportive management (Nguyen et al., 2007; Narayanaswami et al., 2014). Amyloid myopathy is a distinct, rare disorder that can present similarly to inflammatory myopathies and require...

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Bibliographic Details
Main Authors: Abhisek Swaika, Nicole J. Boczek, Neha Sood, Kimberly Guthrie, Eric W. Klee, Ankit Agrawal, Elliot L. Dimberg, Sikander Ailawadhi
Format: Article
Language:English
Published: Hindawi Limited 2016-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2016/9280812

Internet

http://dx.doi.org/10.1155/2016/9280812

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