Phenotypic definition and genotype-phenotype correlates in PMPCA-related disease

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PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology

V Rambani, M Kolnikova, M Cagalinec… - Neurology …, 2023 - AAN Enterprises
Objectives The PMPCA gene encodes the α-subunit of mitochondrial processing peptidase
(α-MPP), an enzyme responsible for cleavage of nuclear-encoded mitochondrial precursor …
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[HTML][HTML] Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia

HA Bagabir, AA Abdulkareem… - Pakistan Journal of …, 2024 - pmc.ncbi.nlm.nih.gov
Background & Objective: Autosomal recessive cerebellar ataxias (ARCA) are rare
heterogenous neurodegenerative disorders characterized by degeneration of the …
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[HTML][HTML] Dystonia as presenting feature of compound heterozygous PMPCA gene variants

T De Santis, V Serpieri, T Biagini… - Movement Disorders …, 2023 - ncbi.nlm.nih.gov
Dystonia can be the manifestation of a plethora of genetic diseases. With the advances of
diagnostic techniques, an everexpanding spectrum of genes causing various dystonia …
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[CITAT][C] Expanding the Phenotypic Variability of PMPCA-Related Ataxia.

E Sanesteban-Beceiro, M Fenollar-Cortés… - Movement Disorders …, 2024 - europepmc.org
Expanding the Phenotypic Variability of PMPCA-Related Ataxia. - Abstract - Europe PMC Sign
in | Create an account https://orcid.org Europe PMC Menu About Tools Developers Help …
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