Identification of mutations in the<i>MYO9A</i>gene in patients with congenital myasthenic syndrome
Congenital myasthenic syndromes are a group of rare and genetically heterogenous disorders resulting from defects in the structure and function of the neuromuscular junction. Patients with congenital myasthenic syndrome exhibit fatigable muscle weakness with a variety of accompanying phenotypes depe...
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| Autori principali: | , , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | inglese |
| Pubblicazione: |
2016
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| Accesso online: | https://doi.org/10.1093/brain/aww130 |
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