Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant

Autor: Gill, JS, Hardy, SA, Blakely, EL, Hopton, S, Nemeth, AH, Fratter, C, Poulton, J, Taylor, RW, Downes, SM

Background/Aim The rare mitochondrial DNA (mtDNA) variant m.8340G>A has been previously reported in the literature in a single, sporadic case of mitochondrial myopathy. In this report, we aim to investigate the case of a 39-year-old male patient with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1064::a338ea1eb3a82e220f1dcb3529aa93e1
https://ora.ox.ac.uk/objects/uuid:cedb9667-cba8-44b8-9c8e-a634fb4d1131

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Autor: Alston, CL, Howard, C, Olahova, M, Hardy, SA, He, L, Murray, PG, O'Sullivan, S, Doherty, G, Shield, JPH, Hargreaves, IP, Monavari, AA, Knerr, I, McCarthy, P, Morris, AAM, Thorburn, DR, Prokisch, H, Clayton, PE, McFarland, R, Hughes, J, Crushell, E, Taylor, RW

Publikováno v: Alston, C L, Howard, C, Oláhová, M, Hardy, S A, He, L, Murray, P G, O'Sullivan, S, Doherty, G, Hamilton-Shield, J P, Hargreaves, I P, Monavari, A A, Knerr, I, McCarthy, P W, Morris, A A M, Thorburn, D R, Prokisch, H, Clayton, P, McFarland, R, Hughes, J, Crushell, E & Taylor, R W 2016, ' A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype ', Journal of Medical Genetics, vol. 53, no. 9, pp. 634-641 . https://doi.org/10.1136/jmedgenet-2015-103576
Alston, C L, Howard, C, Oláhová, M, Hardy, S A, He, L, Murray, P G, O'Sullivan, S, Doherty, G, Shield, J P H, Hargreaves, I P, Monavari, A A, Knerr, I, McCarthy, P, Morris, A A M, Thorburn, D R, Prokisch, H, Clayton, P E, McFarland, R, Hughes, J, Crushell, E & Taylor, R W 2016, ' A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2015-103576
Journal of Medical Genetics

BACKGROUND: Isolated Complex I deficiency is the most common paediatric mitochondrial disease presentation, associated with poor prognosis and high mortality. Complex I comprises 44 structural subunits with at least 10 ancillary proteins; mutations i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a073f4db3bc31a398af2407de1f617f0
https://hdl.handle.net/1983/e081c033-dea2-494f-a3cb-9337e2ceb7df

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