Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy

BACKGROUND: Loss-of-function mutations in the myotubularin (MTM1) gene cause X-linked myotubular myopathy (XLMTM), a fatal, inherited pediatric disease that affects the entire skeletal musculature. Labrador retriever dogs carrying an MTM1 missense mutation exhibit strongly reduced synthesis of myotu...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Goddard, Melissa A., Mack, David L., Czerniecki, Stefan M., Kelly, Valerie E., Snyder, Jessica M., Grange, Robert W., Lawlor, Michael W., Smith, Barbara K., Beggs, Alan H., Childers, Martin K.
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2015
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4630545/
https://ncbi.nlm.nih.gov/pubmed/26605308
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.10.31
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados