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

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...

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Detalles Bibliográficos
Publicado en:BMC Med Genet
Main Authors: Astrea, Guja, Petrucci, Antonio, Cassandrini, Denise, Savarese, Marco, Trovato, Rosanna, Lispi, Ludovico, Rubegni, Anna, Giacanelli, Manlio, Massa, Roberto, Nigro, Vincenzo, Santorelli, Filippo M.
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2016
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4804697/
https://ncbi.nlm.nih.gov/pubmed/27005958
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0288-0
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