Myopathy can be a key phenotype of membrin (GOSR2) deficiency.

Stemmerik, Mads G; Borch, Josefine de S; Dunø, Morten; Krag, Thomas; Vissing, John

Stemmerik, Mads G; Borch, Josefine de S; Dunø, Morten; Krag, Thomas; Vissing, John.

Afiliação

Stemmerik MG; Department of Neurology, Copenhagen Neuromuscular Center, University of Copenhagen, Copenhagen, Denmark.
Borch JS; Department of Neurology, Copenhagen Neuromuscular Center, University of Copenhagen, Copenhagen, Denmark.
Dunø M; Department of Clinical Genetics, Molecular Genetic Laboratory, University Hospital Copenhagen, Copenhagen, Denmark.
Krag T; Department of Neurology, Copenhagen Neuromuscular Center, University of Copenhagen, Copenhagen, Denmark.
Vissing J; Department of Neurology, Copenhagen Neuromuscular Center, University of Copenhagen, Copenhagen, Denmark.

Hum Mutat ; 42(9): 1101-1106, 2021 09.

Article em En | MEDLINE | ID: mdl-34167170

Assuntos

Doenças Musculares; Proteínas Qb-SNARE; Estudos Transversais; Humanos; Músculo Esquelético; Doenças Musculares/genética; Fenótipo; Proteínas Qb-SNARE/genética

Palavras-chave

GOSR2; SNARE proteins; dystroglycans; muscular diseases; myoclonic epilepsies

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Qb-SNARE / Doenças Musculares Tipo de estudo: Observational_studies / Prevalence_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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