A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family

INTRODUCTION: Mutations in the HSPB1 gene encoding the small heat shock protein B1 are associated with an autosomal dominant, axonal form of Charcot–Marie–Tooth disease 2F (CMT2F) and distal hereditary motor neuropathy. Recently, distal myopathy had been described in a patient carrying HSPB1 mutatio...

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Detalles Bibliográficos
Autores principales: Amornvit, Jakkrit, Yalvac, Mehmet E., Chen, Lei, Sahenk, Zarife
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5561327/
https://www.ncbi.nlm.nih.gov/pubmed/28828227
http://dx.doi.org/10.1002/brb3.774

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5561327/
https://www.ncbi.nlm.nih.gov/pubmed/28828227
http://dx.doi.org/10.1002/brb3.774

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