Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neurology"
DOI: 10.1007/s00415-018-9137-8
Abstract: ObjectiveTo describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital myofibrillar myopathy.MethodsWhole exome sequencing was performed for adult-onset neuromuscular disease patients with no… read more here.
Keywords: type; adult onset; onset limb; limb girdle ... See more keywords
Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations.
Sign Up to like & getrecommendations! 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