Title: | Guidelines for genetic testing of muscle and neuromuscular junction disorders |
Journal : | Muscle & Nerve |
Authors: | Nicolau S ; Milone M ; Liewluck T |
Material Type: | Article |
Publisher: | United States, 16/06/2021 |
Languages: | English |
Keywords : | congenital myasthenic syndrome ; diagnosis ; dystrophinopathy ; facioscapulohumeral muscular dystrophy ; genetic diagnosis ; genetics ; guidelines ; hereditary metabolic myopathy ; mitochondrial myopathy ; muscular dystrophy ; myotonic dystrophy ; neuromuscular disease ; neuromuscular junction disease ; oculopharyngeal muscular dystrophy ; oculopharyngodistal muscular dystrophy |
Keywords: | congenital myasthenic syndrome;genetic testing, guideline;inherited myopathy;muscular dystrophy;myotonic dystrophy;next-generation sequencing; |
Pubmed / DOI : | Pubmed : 34133031 / Pubmed : 10.1002/mus.27337 |
N° Profil MNM : | 2021062 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/34133031 |