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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Lippincott Williams & Wilkins 2013
Soggetti:
Article
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi