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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Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2018
Fag:
Original Communication
Online adgang: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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