Homoplasmic mitochondrial tRNAPro mutation causing exercise-induced muscle swelling and fatigue.
Karine AuréGuillemette FayetIvan ChicherinBenoit RuchetonSandrine FilautAnne-Marie HeckelJulie EichlerFlorence CaillonYann PéréonNina S EntelisIvan TarassovAnne LombesPublished in: Neurology. Genetics (2020)
The homoplasmic MT-TP m.15992A>T mutation in the J1c10 haplotype causes exercise-induced muscle swelling and fatigue.