Article

Pathology of Adult and Paediatric Mitochondrial Myopathies

2017-06-13

Abstract excerpt

Mitochondria are dynamic organelles ubiquitously present in nucleated eukaryotic cells, subserving multiple metabolic functions, including cellular ATP generation by oxidative phosphorylation (OXPHOS). The OXPHOS machinery comprises five transmembrane respiratory chain enzyme complexes (RC). Defective OXPHOS gives rise to mitochondrial diseases (mtD). The incredible phenotypic and genetic diversity of mtD can be a...

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Literature Corpus work: bb9ca91e-22d1-5be8-b004-c72439d7b091
DOI: 10.20944/preprints201706.0059.v1

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