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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
IOS Press
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746746/ https://www.ncbi.nlm.nih.gov/pubmed/26870666 http://dx.doi.org/10.3233/JND-150098 |