Cargando…
Homoplasmic mitochondrial tRNA(Pro) mutation causing exercise-induced muscle swelling and fatigue
OBJECTIVE: To demonstrate the causal role in disease of the MT-TP m.15992A>T mutation observed in patients from 5 independent families. METHODS: Lactate measurement, muscle histology, and mitochondrial activities in patients; PCR-based analyses of the size, amount, and sequence of muscle mitochon...
| Autores principales: | , , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371370/ https://www.ncbi.nlm.nih.gov/pubmed/32802947 http://dx.doi.org/10.1212/NXG.0000000000000480 |