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

Abstract excerpt

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 and RAS genes in five unrelated patients with this phenotype, and found HRAS mutations in four of them. Two...

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