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Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy

A group of heterogeneous muscle diseases are caused by dystrophin gene (DMD) mutations. We hereby present a male patient with a diagnosis of symptomatic dilated cardiomyopathy at 44 years-old who developed, soon after, weakness of distal right upper limb. At the age of 58, neurological examination r...

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Bibliografische gegevens
Gepubliceerd in:Acta Myol
Hoofdauteurs: Ribeiro, Joana, Rebelo, Olinda, Fernández-Marmiesse, Ana, Negrão, Luís
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Pacini Editore srl 2018
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6060426/
https://ncbi.nlm.nih.gov/pubmed/30057996
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