Congenital myopathy is caused by mutation of HACD1

Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous non-sense mutation...

Descripción completa

Detalles Bibliográficos
Autores principales: Muhammad, Emad, Reish, Orit, Ohno, Yusuke, Scheetz, Todd, DeLuca, Adam, Searby, Charles, Regev, Miriam, Benyamini, Lilach, Fellig, Yakov, Kihara, Akio, Sheffield, Val C., Parvari, Ruti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3842179/
https://www.ncbi.nlm.nih.gov/pubmed/23933735
http://dx.doi.org/10.1093/hmg/ddt380

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3842179/
https://www.ncbi.nlm.nih.gov/pubmed/23933735
http://dx.doi.org/10.1093/hmg/ddt380

Ejemplares similares