Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

doi:10.1016/j.ajhg.2018.02.014

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Article

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

American journal of human genetics - 5 Apr 2018

Vögtle F-Nora, Brändl Björn, Larson Austin, Pendziwiat Manuela, Friederich Marisa W, White Susan M, Basinger Alice, Kücükköse Cansu, Muhle Hiltrud, Jähn Johanna A, Keminer Oliver, Helbig Katherine L, Delto Carolyn F, Myketin Lisa, Mossmann Dirk, Burger Nils, Miyake Noriko, Burnett Audrey, van Baalen Andreas, Lovell Mark A, Matsumoto Naomichi, Walsh Maie, Yu Hung-Chun, Shinde Deepali N, Stephani Ulrich, Van Hove Johan L K, Müller Franz-Josef, Helbig Ingo

Abstract excerpt

Mitochondrial disorders causing neurodegeneration in childhood are genetically heterogeneous, and the underlying genetic etiology remains unknown in many affected individuals. We identified biallelic variants in PMPCB in individuals of four families including one family with two affected siblings with neurodegeneration and cerebellar atrophy. PMPCB encodes the catalytic subunit of the essential mitochondrial...

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PMID: 29576218
DOI: 10.1016/j.ajhg.2018.02.014
PMCID: PMC5985287

Genes

PMPCB

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