Article
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.
Orphanet journal of rare diseases - 21 Jun 2013
Esposito Teresa, Sampaolo Simone, Limongelli Giuseppe, Varone Antonio, Formicola Daniela, Diodato Daria, Farina Olimpia, Napolitano Filomena, Pacileo Giuseppe, Gianfrancesco Fernando, Di Iorio Giuseppe
Abstract excerpt
BACKGROUND: We report an Italian family in which the proband showed a severe phenotype characterized by the association of congenital fiber type disproportion (CFTD) with a left ventricular non-compaction cardiomyopathy (LVNC). This study was focused on the identification of the responsible gene/s. METHODS AND RESULTS: Using the whole-exome sequencing approach, we identified the proband homozygous missense...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.