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Wt, 187 gms,normal for age
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CK7
Skeletal muscle
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Rahman, J Inh Metab Dis 2013;36:659
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Our patient found to have primary mutation in MTCYB, cyt b SNP’s in DGUOK, MPV17, DNA pol Gamma Complex 3 composed of 11 subunits, 10 encoded by nDNA, 1 by mtDNA (MTCYB, cyt b) Mutations in nDNA result in severe phenotype with encephalopathy and liver failure Mutations in cyt b result mainly in exercise intolerance +/- lactic acidosis Rare reports of MTCYB mutations with early polyvisceral failure (homoplasmy) (Fragaki, mitochodrion 2009)
Our patient
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Fellman and Kotarsky, Sem in Fetal and Neonatal Medicine, 2011
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Hazard et al Ped Dev Path 2013
Autosomal recessive Tissues with respiratory chain deficiency have reduced mtDNA content, but residual mtDNA has no mutations Major cause of neonatal hepatopathy
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2 months
7 months
Hazard et al Ped Dev Path 2013
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