Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del

Laminopathies, a group of heterogeneous disorders associated with lamin A/C gene (LMNA) mutations, encompass a wide spectrum of clinical phenotypes, which may present as separate disease or as overlapping syndromes. We describe a 35-year-old female in whom a novel sporadic heterozygous mutation c.10...

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Detalles Bibliográficos
Autores principales: Madej-Pilarczyk, Agnieszka, Niezgoda, Adam, Janus, Magdalena, Wojnicz, Romuald, Marchel, Michał, Fidziańska, Anna, Grajek, Stefan, Hausmanowa-Petrusewicz, Irena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2016
Materias:
Human Genetics • Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243892/
https://www.ncbi.nlm.nih.gov/pubmed/27585670
http://dx.doi.org/10.1007/s13353-016-0365-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243892/
https://www.ncbi.nlm.nih.gov/pubmed/27585670
http://dx.doi.org/10.1007/s13353-016-0365-2

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