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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2013
Assuntos:
Article
Acesso em linha: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: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados