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Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) - 1 Dec 2023

Teov Bojan, Janchevska Aleksandra, Beqiri-Jasari Ardiana, Tasic Velibor, Kungulovski Goran, Gucev Zoran

Abstract excerpt

Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a genetically and clinically heterogeneous disorder with four described subtypes. Autosomal recessive syndrome of cerebellar ataxia, mental retardation, and disequilibrium type 4 (CAMRQ4) is caused by mutations in the ATP8A2 gene. We report an 8-year-old boy with choreoathetosis, hypotonia, without the ability to keep his head up and...

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PMID: 38109455
DOI: 10.2478/prilozi-2023-0051

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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