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Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness

Congenital myasthenic syndromes are a heterogeneous group of genetically determined disorders characterized by impaired neuromuscular transmission. They usually present from birth to childhood and are characterised by exercise induced weakness and fatigability. Genotype-phenotype correlations are di...

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Publicado en:J Neuromuscul Dis
Autores principales: Evangelista, Teresinha, Hanna, Mike, Lochmüller, Hanns
Formato: Artigo
Lenguaje:Inglês
Publicado: IOS Press 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4746746/
https://ncbi.nlm.nih.gov/pubmed/26870666
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-150098
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