Novel Titin Gene Mutation Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy.

ABSTRACT: We report a genotype-phenotype analysis of a family in which a titinopathy is transmitted in an autosomal dominant pattern. In this family, following neurological history and examination, electromyogram, and muscle biopsy, the diagnosis of limb-girdle muscular dystrophy with contractures was made in an affected mother and son. Genetic testing employing the whole exome was performed and revealed two variants in the TTN gene, c.712G>C, p. Glu238Gln and c.1397A>C, p.Gln466Arg, which segregated with the disease in the affected mother-son duo but not in an unaffected sibling. Although protein modeling suggests that the c.712G>C, p. Glu238Gln polymorphism is damaging, it has been reported in the Genome Aggregation Database which includes exome and genome sequence data of unrelated individ

SUBMITTER: Peddareddygari LR 

PROVIDER: S-EPMC9674195 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature