Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

OBJECTIVE: To report novel disease and pathology due to HSPB8 mutations in 2 families with autosomal dominant distal neuromuscular disease showing both myofibrillar and rimmed vacuolar myopathy together with neurogenic changes. METHODS: We performed whole-exome sequencing (WES) in tandem with linkag...

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Publié dans:Neurology
Auteurs principaux: Ghaoui, Roula, Palmio, Johanna, Brewer, Janice, Lek, Monkol, Needham, Merrilee, Evilä, Anni, Hackman, Peter, Jonson, Per-Harald, Penttilä, Sini, Vihola, Anna, Huovinen, Sanna, Lindfors, Mikaela, Davis, Ryan L., Waddell, Leigh, Kaur, Simran, Yiannikas, Con, North, Kathryn, Clarke, Nigel, MacArthur, Daniel G., Sue, Carolyn M., Udd, Bjarne
Format: Artigo
Langue:Inglês
Publié: Lippincott Williams & Wilkins 2016
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4776089/
https://ncbi.nlm.nih.gov/pubmed/26718575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002324
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