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Vibhuti Rambani on Muck Rack

Vibhuti Rambani

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Articles

PMPCA-Related Encephalopathy

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By Slovak Academy, Miriam Kolnikova, Michal Cagalinec, Vibhuti Rambani
| Neurology Verified
Introduction Mitochondrial processing peptidase (MPP) is a heterodimeric enzyme responsible for proteolytic cleavage of targeting presequences of nuclear-encoded mitochondrial precursor proteins after their import into mitochondria.1 The PMPCA gene (9q34.3, MIM#613036) encodes the α-subunit of MPP that is important for substrate recognition.2 In total, 9 different recessive variants have been described to date in 24 patients from 9 families.
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