Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

OBJECTIVE: To 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. METHODS: Whole exome sequencing was performed for adult-onset neuromuscular disease patients with n...

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Detalhes bibliográficos
Publicado no:J Neurol
Main Authors: Sainio, Markus T., Välipakka, Salla, Rinaldi, Bruno, Lapatto, Helena, Paetau, Anders, Ojanen, Simo, Brilhante, Virginia, Jokela, Manu, Huovinen, Sanna, Auranen, Mari, Palmio, Johanna, Friant, Sylvie, Ylikallio, Emil, Udd, Bjarne, Tyynismaa, Henna
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2018
Assuntos:
Original Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6373352/
https://ncbi.nlm.nih.gov/pubmed/30515627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-018-9137-8
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