Article
A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity.
Neuromuscular disorders : NMD - 1 Nov 2021
Baty Karen, Farrugia Maria E, Hopton Sila, Falkous Gavin, Schaefer Andrew M, Stewart William, Willison Hugh J, Reilly Mary M, Blakely Emma L, Taylor Robert W, Ng Yi Shiau
Abstract excerpt
Pathogenic variants in mitochondrial DNA (mtDNA) are associated with significant clinical heterogeneity with neuromuscular involvement commonly reported. Non-syndromic presentations of mtDNA disease continue to pose a diagnostic challenge and with genomic testing still necessitating a muscle biopsy in many cases. Here we describe an adult patient who presented with progressive ataxia, neuropathy and exercise...
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