MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
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چکیده
منابع مشابه
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
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 m...
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ژورنال
عنوان ژورنال: EBioMedicine
سال: 2018
ISSN: 2352-3964
DOI: 10.1016/j.ebiom.2018.02.010