Expanding the Phenotypic Variability of <scp><i>PMPCA</i></scp>‐Related Ataxia-Reference-Cited by-同舟云学术

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Expanding the Phenotypic Variability of PMPCA‐Related Ataxia

Published:2024-05-02 Issue:7 Volume:11 Page:894-896
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Sanesteban‐Beceiro Esteban¹^ORCID,Fenollar‐Cortés María²,Herrero‐Forte Clara²,Gómez‐Mayordomo Victor³^ORCID,Catalán‐Alonso María J.¹,Alonso‐Frech Fernando¹

Affiliation:

1. Movement Disorders Unit, Neurology Department IdISSC, Clínico San Carlos Hospital Madrid Spain

2. Clinical Genetics Unit, Clinical Analysis Department Institut of Laboratory Medicine, IdISSC, Clínico San Carlos Hospital Madrid Spain

3. Department of Neurology, Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group Madrid Spain

Publisher

Wiley

Reference8 articles.

1. PMPCAmutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

2. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease

3. Autosomal recessive cerebellar ataxia caused by a homozygous mutation inPMPCA

4. Teaching NeuroImages: Leigh-like features expand the picture of PMPCA-related disorders

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

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