New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

Nemaline Myopathy (NM) is a rare genetic disorder that encompasses a large spectrum of myopathies characterized by hypotonia and generalized muscle weakness. To date, mutations in thirteen different genes have been associated with NM. The most frequently responsible genes are NEB (50% of cases) and...

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發表在:PLoS One
Main Authors: Moreau-Le Lan, Sarah, Aller, Elena, Calabria, Ines, Gonzalez-Tarancon, Lola, Cardona-Gay, Cristina, Martinez-Matilla, Marina, Aparisi, Maria J., Selles, Jorge, Sagath, Lydia, Pitarch, Inmaculada, Muelas, Nuria, Cervera, Jose V., Millan, Jose M., Pedrola, Laia
格式: Artigo
語言:Inglês
出版: Public Library of Science 2018
主題:
Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6281284/
https://ncbi.nlm.nih.gov/pubmed/30517146
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0207296
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