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...

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Bibliografiska uppgifter
I publikationen:Eur J Hum Genet
Huvudupphovsmän: Hedberg-Oldfors, Carola, Darin, Niklas, Olsson Engman, Mia, Orfanos, Zacharias, Thomsen, Christer, van der Ven, Peter F M, Oldfors, Anders
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2016
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Article
Länkar: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
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