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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2018
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373352/
https://www.ncbi.nlm.nih.gov/pubmed/30515627
http://dx.doi.org/10.1007/s00415-018-9137-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373352/
https://www.ncbi.nlm.nih.gov/pubmed/30515627
http://dx.doi.org/10.1007/s00415-018-9137-8

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