Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

Neuromuscular diseases (NMD) account for a significant proportion of infant and childhood mortality and devastating chronic disease. Determining the specific diagnosis of NMD is challenging due to thousands of unique or rare genetic variants that result in overlapping phenotypes. We present four uni...

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Bibliographic Details
Main Authors: Hunter, Jesse M, Ahearn, Mary Ellen, Balak, Christopher D, Liang, Winnie S, Kurdoglu, Ahmet, Corneveaux, Jason J, Russell, Megan, Huentelman, Matthew J, Craig, David W, Carpten, John, Coons, Stephen W, DeMello, Daphne E, Hall, Judith G, Bernes, Saunder M, Baumbach-Reardon, Lisa
Format: Online
Language:English
Published: John Wiley & Sons, Ltd 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521965/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521965/

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