A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report.
Nirmala Dushyanthi SirisenaU M Jayami Eshana SamaranayakeOsorio Lopes Abath NetoA Reghan FoleyB A P Sajeewani PathiranaNilaksha NeththikumaraC Sampath PaththinigePyara RathnayakeSandra DonkervoortCarsten G BönnemannVajira H W DissanayakePublished in: BMC neurology (2021)
The findings in this family add to the expanding number of COL6A1 variants identified and provides a better understanding of the genotype-phenotype correlations associated with UCMD.