A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference28 articles.
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3. Advances in primary mitochondrial myopathies;de Barcelos;Curr Opin Neurol,2019
4. Current and new next-generation sequencing approaches to study mitochondrial DNA;Legati;J Mol Diagn,2021
5. Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells;Invernizzi;Mitochondrion,2012
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