Article
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
Brain : a journal of neurology - 1 Jan 2013
Weterman Marian A J, Barth Peter G, van Spaendonck-Zwarts Karin Y, Aronica Eleonora, Poll-The Bwee-Tien, Brouwer Oebele F, van Tintelen J Peter, Qahar Zohal, Bradley Edward J, de Wissel Marit, Salviati Leonardo, Angelini Corrado, van den Heuvel Lambertus, Thomasse Yolande E M, Backx Ad P, Nürnberg Gudrun, Nürnberg Peter, Baas Frank
Abstract excerpt
A cardioskeletal myopathy with onset and death in infancy, morphological features of muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy was previously reported in three Dutch families. Here we report the genetic cause of this disorder. Multipoint parametric linkage analysis of six Dutch patients identified a homozygous region of 2.1 Mb on chromosome 12, which was shared between...
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