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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Autors principals: van der Burgt, Ineke, Kupsky, William, Stassou, Stephani, Nadroo, Ali, Barroso, Cândida, Diem, Angelika, Kratz, Christian P, Dvorsky, Radovan, Ahmadian, Mohammad Reza, Zenker, Martin
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2007
Matèries:
Letter to JMG
Accés en línia: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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