Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion

A common null polymorphism (R577X) in ACTN3 causes α-actinin-3 deficiency in ∼18% of the global population. There is no associated disease phenotype, but α-actinin-3 deficiency is detrimental to sprint and power performance in both elite athletes and the general population. However, despite consider...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Hum Mol Genet
Главные авторы: Hogarth, Marshall W., Garton, Fleur C., Houweling, Peter J., Tukiainen, Taru, Lek, Monkol, Macarthur, Daniel G., Seto, Jane T., Quinlan, Kate G.R., Yang, Nan, Head, Stewart I., North, Kathryn N.
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2016
Предметы:
Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4754040/
https://ncbi.nlm.nih.gov/pubmed/26681802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv613
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы