Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy

Congenital muscular dystrophy with megaconial myopathy (MDCMC) is an autosomal recessive disorder characterized by progressive muscle weakness and wasting. The observation of megamitochondria in skeletal muscle biopsies is exclusive to this type of MD. The disease is caused by loss of function mutat...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Sayed-Zahid, Ambreen A, Sher, Roger B, Sukoff Rizzo, Stacey J, Anderson, Laura C, Patenaude, Kathryn E, Cox, Gregory A
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2019
Témata:
General Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687948/
https://ncbi.nlm.nih.gov/pubmed/31216357
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz068
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