A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations.

Nazli, Aisha

A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations. [electronic resource] - European journal of human genetics : EJHG 06 2017 - 744-751 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/ejhg.2017.20 doi


Cell Respiration
Cells, Cultured
Child, Preschool
Female
Fibroblasts--metabolism
Humans
Membrane Proteins--genetics
Mitochondrial Encephalomyopathies--genetics
Mitochondrial Membranes--metabolism
Mitochondrial Proteins--genetics
Mutation
Oxygen--metabolism
RNA Splicing