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

This section covers rare inherited disorders of mitochondrial transcript processing…
1.10.b

Disorders of mitochondrial aminoacyl-tRNA synthetases

This section covers rare inherited disorders of the mitochondrial aminoacyl-tRNA…
1.10.c

Disorders of the mitoribosome

This section covers rare inherited disorders of the mitoribosome, including…

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