Article
A COA8 homozygous mutation presenting as an intermediate CMT with leukopathy.
Neuromuscular disorders : NMD - 1 Jul 2026
Dupic A, Evangelista T, Labella B, Gaignard P, Becker P H, Turmel H, Konyukh M, Masingue M
Abstract excerpt
Patients with cytochrome c oxidase (COX) deficiency exhibit clinical heterogeneity, with onset ranging from infancy to adulthood. COA8-related disorders typically present in childhood with acute symptoms and cavitating posterior leukoencephalopathy, though milder, muscle-predominant forms have recently been reported. We describe a 54-year-old woman with a neuropathy with slow conduction velocities and...
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