%0 Journal Article
%T Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy
%J -
%D 2019
%R https://doi.org/10.1038/s41439-019-0052-z
%X A 2-year-old boy was diagnosed with Ullrich congenital muscular dystrophy (UCMD) by muscle biopsy. COL6A3 gene analysis by next-generation sequencing revealed two heterozygous splice-site mutations (c.6283-1£¿G£¿>£¿G/T and c.6310-2£¿A£¿>£¿A/T), whereas normal mRNA was produced. Genomic DNA analysis revealed two mutations located on the same allele; however, no mutation was detected in either parent. These results indicated that two closely spaced de novo mutations resulted in the autosomal dominant UCMD
%U https://www.nature.com/articles/s41439-019-0052-z