Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

OBJECTIVE: To identify causative genes for centronuclear myopathies (CNM), a heterogeneous group of rare inherited muscle disorders that often present in infancy or early life with weakness and hypotonia, using next-generation sequencing of whole exomes and genomes. METHODS: Whole-exome or -genome s...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Ceyhan-Birsoy, Ozge, Agrawal, Pankaj B., Hidalgo, Carlos, Schmitz-Abe, Klaus, DeChene, Elizabeth T., Swanson, Lindsay C., Soemedi, Rachel, Vasli, Nasim, Iannaccone, Susan T., Shieh, Perry B., Shur, Natasha, Dennison, Jane M., Lawlor, Michael W., Laporte, Jocelyn, Markianos, Kyriacos, Fairbrother, William G., Granzier, Henk, Beggs, Alan H.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Lippincott Williams & Wilkins 2013
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3795603/
https://ncbi.nlm.nih.gov/pubmed/23975875
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182a6ca62
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