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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Dades bibliogràfiques
Publicat a:J Neurol
Autors principals: 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
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2018
Matèries:
Original Communication
Accés en línia: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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