Article
Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2.
Molecular biology reports - 1 Sept 2023
Naghipoor Karim, Khosravi Teymoor, Oladnabi Morteza
Abstract excerpt
BACKGROUND: Mutations within the COL12A1 gene have been linked with the onset of congenital Ullrich muscular dystrophy 2 (UCMD2) and Bethlem myopathy. The severity of the symptoms exhibited is dependent on the mutation's type and whether it is heterozygous or homozygous. METHODS: We used whole-exome sequencing to identify disease-causing variants in a nine-year-old Iranian patient who had weakness, joint...
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