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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Bibliografische gegevens
Gepubliceerd in:J Neurol
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Berlin Heidelberg 2018
Onderwerpen:
Original Communication
Online toegang: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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