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Article

Segregation of the COL6A2 Variant (c.1817-3C>G) in a Consanguineous Saudi Family with Bethlem Myopathy.

Genes - 30 Oct 2024

Aldharee Hitham, Hamdan Hamdan Z

Abstract excerpt

Introduction: Bethlem myopathy is a rare genetic disease caused by a variant mapped to 21q22, which harbors the collagen type VI alpha 2 chain (COL6A2) and collagen type VI alpha 1 chain (COL6A1) genes, and 2q37, which harbors the collagen type VI alpha 3 chain (COL6A3) gene. Disease onset can occur at any age, and the symptoms are related to those of muscular dystrophy. Since Bethlem myopathy is a rare disease,...

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Identifiers

PMID: 39596604
DOI: 10.3390/genes15111405
PMCID: PMC11593470

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