What question did this study set out to answer?

To explore the phenotypic diversity associated with NDUFS6 variants, particularly in childhood-onset cases.

Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy

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Reports a case of NDUFS6-related neuropathy in childhood, highlighting phenotypic diversity and implications for diagnosis.

To explore the phenotypic diversity associated with NDUFS6 variants, particularly in childhood-onset cases.
Case report of a patient with a novel NDUFS6 variant
Utilized whole-exome sequencing for genetic analysis
Documented clinical manifestations including gait abnormality, weakness, and epilepsy
Identified a novel homozygous NDUFS6 nonsense variant
Patient exhibited a neuropathy-predominant phenotype without neonatal metabolic issues
Findings expand the known clinical spectrum of NDUFS6-related disorders

Baris et al. (2026) studied this question.

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View Full Paper

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Authors

Reports a case of NDUFS6-related neuropathy in childhood, highlighting phenotypic diversity and implications for diagnosis.

To explore the phenotypic diversity associated with NDUFS6 variants, particularly in childhood-onset cases.
Case report of a patient with a novel NDUFS6 variant
Utilized whole-exome sequencing for genetic analysis
Documented clinical manifestations including gait abnormality, weakness, and epilepsy
Identified a novel homozygous NDUFS6 nonsense variant
Patient exhibited a neuropathy-predominant phenotype without neonatal metabolic issues
Findings expand the known clinical spectrum of NDUFS6-related disorders

Baris et al. (2026) studied this question.

View Full Paper

Ask AI

Bookmark