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

Authors

Keywords

mitochondrial presequence protease, mitochondrial targeting signal, mitochondrial protein biogenesis, mitochondrial disease, neurodegeneration

Journal

Volume 102, Issue 4, Pages 557-573

Publisher

Elsevier BV

Online

2018-03-22

DOI

10.1016/j.ajhg.2018.02.014

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