Motor Neuropathy in a Patient With Mitochondrial Disease and a Novel <scp>TTC19</scp> Variant: An Underrecognized Phenotypic Feature
This case, featuring a novel TTC19 variant and detailed electrophysiological data, further supports the presence of pure motor neuropathy within the phenotypic spectrum of TTC19-related disease. The co-occurrence of Leigh syndrome MRI findings and motor neuropathy represents a specific diagnostic clue that may help prioritize genetic testing in patients with overlapping central and peripheral motor involvement.
Authors
- Charline Benoit (ORCID: https://orcid.org/0000-0001-5617-0912)
- Daniele Mandia (ORCID: https://orcid.org/0000-0003-4069-0483)
- Yann Nadjar (ORCID: https://orcid.org/0000-0003-1466-6957)
- Tanya Stojkovic
Institutions
- Sorbonne Université (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Institut de Myologie (FR)
- Pitié-Salpêtrière Hospital (FR)
Publication Details
- Journal
- Journal of the Peripheral Nervous System
- Published
- 2025-09-01
- DOI
- https://doi.org/10.1111/jns.70060
- Citations
- 1
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.84