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
10.3233/JND-221542
J Neuromuscul Dis
2023;10(2):271-277.
cms11 congenital myasthenic syndrome rapsn rapsyn whole exome sequencing diaphragmatic dystrophy
CC BY
https://pubmed.ncbi.nlm.nih.gov/36591657/
Muscular Dystrophies Myasthenic Syndromes, Congenital / genetics
Muscular Dystrophies Myasthenic Syndromes, Congenital / genetics Case Reports Diaphragm Humans Male Mutation Quality of Life
PMC10041432
36591657
Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11
2023