MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

doi:10.1016/j.ebiom.2018.02.010

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Article

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

EBioMedicine - 1 Apr 2018

Ng Yi Shiau, Lax Nichola Z, Maddison Paul, Alston Charlotte L, Blakely Emma L, Hepplewhite Philippa D, Riordan Gillian, Meldau Surita, Chinnery Patrick F, Pierre Germaine, Chronopoulou Efstathia, Du Ailian, Hughes Imelda, Morris Andrew A, Kamakari Smaragda, Chrousos Georgia, Rodenburg Richard J, Saris Christiaan G J, Feeney Catherine, Hardy Steven A, Sakakibara Takafumi, Sudo Akira, Okazaki Yasushi, Murayama Kei, Mundy Helen, Hanna Michael G, Ohtake Akira, Schaefer Andrew M, Champion Mike P, Turnbull Doug M, Taylor Robert W, Pitceathly Robert D S, McFarland Robert, Gorman Gráinne S

Abstract excerpt

Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers. Ten patients were deceased at the time of analysis (median age of death was 10years (range: 5·4months-37years, IQR=17·9years). Nine patients manifested with LS,...

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PMID: 29506874
DOI: 10.1016/j.ebiom.2018.02.010
PMCID: PMC5952215

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