Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

BACKGROUND: Hereditary myopathy with early respiratory failure (HMERF) was described in several North European families and recently linked to a titin gene (TTN) mutation. We independently studied HMERF-like diseases with the purpose to identify the cause, refine diagnostic criteria, and estimate th...

Descripción completa

Detalles Bibliográficos
Autores principales: Toro, Camilo, Olivé, Montse, Dalakas, Marinos C, Sivakumar, Kumaraswami, Bilbao, Juan M, Tyndel, Felix, Vidal, Noemí, Farrero, Eva, Sambuughin, Nyamkhishig, Goldfarb, Lev G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3610280/
https://www.ncbi.nlm.nih.gov/pubmed/23514108
http://dx.doi.org/10.1186/1471-2377-13-29

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3610280/
https://www.ncbi.nlm.nih.gov/pubmed/23514108
http://dx.doi.org/10.1186/1471-2377-13-29

Ejemplares similares