Phenotypic Definition and Genotype-Phenotype Correlates in PMPCA-Related Disease

Phenotypic Definition and Genotype-Phenotype Correlates in PMPCA-Related Disease

Background: Peptidase mitochondrial processing alpha (<i>PMPCA</i>) biallelic mutations cause a spectrum of disorders ranging from severe progressive multisystemic mitochondrial encephalopathy to a milder non-progressive cerebellar ataxia with or without intellectual disability. Recently...

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Bibliographic Details
Main Authors: Valentina Serpieri, Tommaso Biagini, Concetta Mazzotta, Rosa Pasquariello, Anna Rubegni, Filippo Santorelli, Gerardo Ongari, Silvia Cerri, Tommaso Mazza, Roberta Battini, Enza Maria Valente
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:Applied Sciences
Subjects:
SCAR2
PMPCA
non progressive cerebellar atrophy
mitochondrial encephalopathy
striatal hyperintensity
α-MPP
Online Access:https://www.mdpi.com/2076-3417/11/2/748

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https://www.mdpi.com/2076-3417/11/2/748

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