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Article

Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene.

International journal of molecular sciences - 9 Oct 2024

Kuchina Anna, Murtazina Aysylu, Borovikov Artem, Subbotin Dmitrii, Bardakov Sergey, Akhkiamova Maria, Nikolaeva Aleksandra, Shchagina Olga, Kutsev Sergey

Abstract excerpt

We report a case of SYNE1-associated autosomal recessive spinocerebellar ataxia (SCAR8) presenting with a complex multisystemic phenotype, including highly elevated creatine kinase levels and lower-leg muscle atrophy. In addition to identifying two novel pathogenic variants in the SYNE1 gene, whole-exome sequencing revealed three variants of uncertain significance in the DYSF gene. Electromyography and muscle...

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Identifiers

PMID: 39409170
DOI: 10.3390/ijms251910841
PMCID: PMC11476505

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