Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.
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DOI: 10.1016/j.ajhg.2018.02.014
Abstract: 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… read more here.
Keywords: catalytic subunit; neurodegeneration; neurodegeneration early; mutations pmpcb ... See more keywords