Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

BACKGROUND: Rare reports on patients with congenital myopathy with excess of muscle spindles (CMEMS), hypertrophic cardiomyopathy and variable features resembling Noonan syndrome have been published, but the genetic basis of this condition is so far unknown. METHODS AND RESULTS: We analysed PTPN11 a...

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Detalhes bibliográficos
Main Authors: van der Burgt, Ineke, Kupsky, William, Stassou, Stephani, Nadroo, Ali, Barroso, Cândida, Diem, Angelika, Kratz, Christian P, Dvorsky, Radovan, Ahmadian, Mohammad Reza, Zenker, Martin
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Letter to JMG
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598013/
https://ncbi.nlm.nih.gov/pubmed/17412879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.049270
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