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Mitochondrial complex III deficiency nuclear type 2: a case report and analysis of clinical onset age-related phenotypic features.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 7 May 2026

Lan Shih-Chun, Chang Yung-Yee, Chen Shu-Fang, Chen Ying-Fa, Lan Min-Yu

Abstract excerpt

CASE PRESENTATION: Mitochondrial complex III deficiency nuclear type 2 (MC3DN2) is a rare inherited neurometabolic disease. A 34-year-old male had neuropsychiatric episodes, progressive cerebellar degeneration, myopathy, polyneuropathy, and brain stem and basal ganglion lesions since childhood. Muscle biopsy revealed mitochondrial abnormalities. Two novel TTC19 pathogenic variants were detected. LITERATURE...

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PMID: 42091683
DOI: 10.1007/s10072-026-09073-6

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