LAUSR

Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations.

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0 Published in 2020 at "Journal of Clinical Neuromuscular Disease"

DOI: 10.1097/cnd.0000000000000277

Abstract: Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders characterized by a neuromuscular transmission defect. Mutations in novel genes have been described in recent years. Among these, MUSK gene mutations are extremely rare, with only… read more here.

Keywords: late onset; ophthalmoplegia late; onset limb; weakness ... See more keywords