Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies

Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies

Mitochondrial myopathies are progressive muscle disorders caused by impaired mitochondrial oxidative phosphorylation, leading to reduced adenosine triphosphate production. Skeletal muscles have a high energy demand and are often the first to be affected. In addition to muscular symptoms (muscle weak...

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Bibliographic Details
Main Authors: Sylvia Rose, Aurélien Trimouille, Didier Lacombe, Edoardo Malfatti, Zahra Assouline, Julie Steffann, Isabelle Desguerre, Arnold Munnich, Agnès Rötig, Giulia Barcia
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mitochondrial myopathy
Heteroplasmy
Muscle biopsy
mtDNA
MT-TF
Online Access:http://www.sciencedirect.com/science/article/pii/S221442692500045X
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