A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency

We describe a new early-onset neuromuscular disorder due to a homozygous loss-of-function variant in the kyphoscoliosis peptidase gene (KY). A 7.5-year-old girl with walking difficulties from 2 years of age presented with generalized muscle weakness; mild contractures in the shoulders, hips and feet...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Eur J Hum Genet
Main Authors: Hedberg-Oldfors, Carola, Darin, Niklas, Olsson Engman, Mia, Orfanos, Zacharias, Thomsen, Christer, van der Ven, Peter F M, Oldfors, Anders
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2016
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5117942/
https://ncbi.nlm.nih.gov/pubmed/27485408
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.98
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares