Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

Variants in ACTA1, which encodes α-skeletal actin, cause several congenital myopathies, most commonly nemaline myopathy. Autosomal recessive variants comprise approximately 10% of ACTA1 myopathy. All recessive variants reported to date have resulted in loss of skeletal α-actin expression from muscle...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: O'Grady, Gina L, Best, Heather A, Oates, Emily C, Kaur, Simranpreet, Charlton, Amanda, Brammah, Susan, Punetha, Jaya, Kesari, Akanchha, North, Kathryn N, Ilkovski, Biljana, Hoffman, Eric P, Clarke, Nigel F
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795062/
https://ncbi.nlm.nih.gov/pubmed/25182138
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.169
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