A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

INTRODUCTION: Mutations in the COL12A1 gene have been described in a milder Bethlem-like myopathy in 6 patients from 3 families (dominant missense), and in a severe congenital form with failure to attain ambulation in 2 patients in a single pedigree (recessive loss-of-function). METHODS: We describe...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Muscle Nerve
Autori principali: Punetha, Jaya, Kesari, Akanchha, Hoffman, Eric P., Gos, Monika, Kamińska, Anna, Kostera-Pruszczyk, Anna, Hausmanowa-Petrusewicz, Irena, Hu, Ying, Zou, Yaqun, Bönnemann, Carsten G., Jędrzejowska, Maria
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
Soggetti:
Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5236000/
https://ncbi.nlm.nih.gov/pubmed/27348394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.25232
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi