Mitochondrial disease

Gene: TTC19

Green List (high evidence)

Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life. The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances.

At least 4 unrelated families reported.

Created: 7 Apr 2022, 8:10 a.m. | Last Modified: 7 Apr 2022, 8:10 a.m.

Panel Version: 0.12759

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 2, MIM#615157

Publications

• 21278747
• 23532514
• 24368687
• 24397319