1.10

Disorders of mitochondrial gene expression

This rapidly expanding group of now more than 60 conditions includes disorders that impact mitochondrial transcription and translation. These can affect mitochondrial transcript processing and modification, aminoacyl-tRNA synthetases, and the mitoribosome.The symptoms associated with these diseases can be diverse and may include fever, developmental delays, sideroblastic anemia, liver and ovarian failure, sensory neuropathy, and skeletal dysplasia.

1.10.a

Disorders of mitochondrial transcript processing and modification

Mitochondrial RNA polymerase deficiency Mitochondrial RNA import protein deficiency (Combined…
1.10.b

Disorders of mitochondrial aminoacyl-tRNA synthetases

Mitochondrial alanyl-tRNA synthetase deficiency (Combined oxidative phosphorylation deficiency type 8;…
1.10.c

Disorders of the mitoribosome

Mitochondrial ribosomal large subunit 3 deficiency (Combined oxidative phosphorylation deficiency type 9)…

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