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Novel Variant in ANO5 Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis.

Genes - 6 Oct 2024

Ćuk Mario, Unal Busra, Lovrenčić Luka, Walker McKenzie, Hayes Connor P, Abraamyan Feruza, Prutki Maja, Krakar Goran, Srkoč-Majčica Lidija, Ghazani Arezou A

Abstract excerpt

BACKGROUND: The phenotypic spectrum of ANO5 muscle disease ranges widely from elevated creatine kinase (CK) levels in the serum of asymptomatic individuals to progressive muscular dystrophy. Due to overlapping clinical features among muscular dystrophies, the diagnosis of ANO5 muscle disease is established by molecular genetic tests. Early diagnosis is crucial for the clinical management of symptoms and to...

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Adolescent
Anoctamins
Heterozygote
Muscular Dystrophies
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Whole Genome Sequencing

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PMID: 39457424
DOI: 10.3390/genes15101300
PMCID: PMC11507210

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