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CASE REPORT
Year : 2022  |  Volume : 7  |  Issue : 2  |  Page : 81-83

A case report of methylmalonic acidemia associated with CYBT gene mutation


1 Department of Pediatric Neurology, Institute of Pediatric Neurodisorder and Autism (IPNA), Dhaka, Bangladesh
2 Department of Pediatric Neurology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh

Correspondence Address:
Dr. Kanij Fatema
Department of Pediatric Neurology, IPNA, Bangabandhu Sheikh Mujib Medical University, Dhaka
Bangladesh
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/pnjb.pnjb_12_22

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Mutation in mitochondrial cytochrome b (CYTB) gene is associated with severely impaired complex III activity and oxidative phosphorylation and commonly presents with mitochondrial myopathy, exercise intolerance, and often multisystem involvement. We report a rare case of Methylmalonic acidemia who was finally found to have a pathogenic novel missense mutation (m.14766C>T, p.Thr7IIe) in the CYTB gene.


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