Clinical utility gene card for McArdle disease

Name of the disease (synonyms) McArdle disease (glycogenosis type V; glycogen storage disease V (GSDV); PYGM deficiency; muscle glycogen phosphorylase deficiency; myophosphorylase deficiency). OMIM# of the disease #232600. Name of the analysed genes or DNA/chromosome segments Muscle glycogen phospho...

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Bibliographic Details
Published in:Eur J Hum Genet
Main Authors: Taylor, Rhonda L., Davis, Mark, Turner, Emma, Brull, Astrid, Pinos, Tomás, Cabrera, Macarena, Nowak, Kristen J.
Format: Artigo
Language:Inglês
Published: Springer International Publishing 2018
Subjects:
Clinical Utility Gene Card
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5945672/
https://ncbi.nlm.nih.gov/pubmed/29371640
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0070-6
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