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  1. 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

    http://iris.ucl.ac.uk/iris/publication/1113736/7

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