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Core Clinical Phenotypes in Myotonic Dystrophies

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent multisystemic muscular dystrophies in adulthood. They are progressive, autosomal dominant diseases caused by an abnormal expansion of an unstable nucleotide repeat located in the non-coding region of their respective genes...

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Detalhes bibliográficos
Publicado no:Front Neurol
Main Authors: Wenninger, Stephan, Montagnese, Federica, Schoser, Benedikt
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5941986/
https://ncbi.nlm.nih.gov/pubmed/29770119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2018.00303
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