A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment.

ABSTRACT: Mitochondrial complex III deficiency nuclear type 2 is an autosomal-recessive disorder caused by mutations in TTC19 gene. TTC19 is involved in the preservation of mitochondrial complex III, which is responsible for transfer of electrons from reduced coenzyme Q to cytochrome C and thus, contributes to the formation of electrochemical potential and subsequent ATP generation. Mutations in TTC19 have been found to be associated with a wide range of neurological and psychological manifestations. Herein, we report on a 15-year-old boy born from first-degree cousin parents, who initially presented with psychiatric symptoms. He subsequently developed progressive ataxia, spastic paraparesis with involvement of caudate bodies and lentiform nuclei with cerebellar atrophy. Eventua

SUBMITTER: Habibzadeh P 

PROVIDER: S-EPMC6737916 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature