Loading...

Mutation m.15923A>G in the MT-TT gene causes mild myopathy – case report of an adult-onset phenotype

BACKGROUND: Only five patients have previously been reported to harbor mutations in the MT-TT gene encoding mitochondrial tRNA threonine. The m.15923A > G mutation has been found in three severely affected children. One of these patients died within days after birth and two had a phenotype of myo...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:BMC Neurol
Main Authors: Kärppä, Mikko, Kytövuori, Laura, Saari, Markku, Majamaa, Kari
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2018
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6147040/
https://ncbi.nlm.nih.gov/pubmed/30236074
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-018-1159-4
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!