Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient

Glycogen storage disease type IV (GSD IV, Andersen disease) is a rare autosomal recessive condition. The childhood neuromuscular subtype of GSD IV is characterised by a progressive skeletal myopathy with cardiomyopathy also reported in some individuals. We report a case of a 19-year-old man who pres...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Ndugga-Kabuye, Mesaki Kenneth, Maleszewski, Joseph, Chanprasert, Sirisak, Smith, Kelly D
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2019
Assuntos:
Rare Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6747896/
https://ncbi.nlm.nih.gov/pubmed/31527204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-230068
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