article_metadata: J J Kramer H T M Boon Q H Leijten Henk Ter Laak L Eshuis B Kusters J L M van Doorn E J Kamsteeg B Eymard J Doorduin N C Voermans
article_metadata: 10.3233/JND-221542
article_metadata: J Neuromuscul Dis
article_metadata: 2023;10(2):271-277.
article_metadata: cms11 congenital myasthenic syndrome rapsn rapsyn whole exome sequencing diaphragmatic dystrophy
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36591657/
article_metadata: Muscular Dystrophies Myasthenic Syndromes, Congenital / genetics
article_metadata: Muscular Dystrophies Myasthenic Syndromes, Congenital / genetics Case Reports Diaphragm Humans Male Mutation Quality of Life
article_metadata: PMC10041432
article_metadata: 36591657
article_metadata: Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11
article_metadata: 2023