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...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Neurol Genet
Egile Nagusiak: Auré, Karine, Fayet, Guillemette, Chicherin, Ivan, Rucheton, Benoit, Filaut, Sandrine, Heckel, Anne-Marie, Eichler, Julie, Caillon, Florence, Péréon, Yann, Entelis, Nina, Tarassov, Ivan, Lombès, Anne
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Wolters Kluwer 2020
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7371370/
https://ncbi.nlm.nih.gov/pubmed/32802947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000480
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