Article
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.
Neurogenetics - 1 Dec 2017
Glasgow Ruth I C, Thompson Kyle, Barbosa Inês A, He Langping, Alston Charlotte L, Deshpande Charu, Simpson Michael A, Morris Andrew A M, Neu Axel, Löbel Ulrike, Hall Julie, Prokisch Holger, Haack Tobias B, Hempel Maja, McFarland Robert, Taylor Robert W
Abstract excerpt
Mitochondrial diseases are characterised by clinical, molecular and functional heterogeneity, reflecting their bi-genomic control. The nuclear gene GFM2 encodes mtEFG2, a protein with an essential role during the termination stage of mitochondrial translation. We present here two unrelated patients harbouring different and previously unreported compound heterozygous (c.569G>A, p.(Arg190Gln); c.636delA,...
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