Article
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.
BMC medical genetics - 22 Mar 2016
Astrea Guja, Petrucci Antonio, Cassandrini Denise, Savarese Marco, Trovato Rosanna, Lispi Ludovico, Rubegni Anna, Giacanelli Manlio, Massa Roberto, Nigro Vincenzo, Santorelli Filippo M
Abstract excerpt
BACKGROUND: Myosin heavy chain 7 related myopathies are rare disorders characterized by a wide phenotypic spectrum and heterogeneous pathological features. In the present study, we performed clinical, morphological, genetic and imaging investigations in three relatives affected by autosomal dominant distal myopathy. Whilst earlier traditional Sanger investigations had pointed to the wrong gene as disease...
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