Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

ABSTRACT:

Background

Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in the gene encoding the giant skeletal muscle protein titin (TTN) are associated with several muscle disorders, including cardiomyopathy, recessive congenital myopathies and limb-girdle muscular dystrophy (LGMD) type10. The phenotypic spectrum of titinopathies is expanding, as next generation sequencing (NGS) technology makes screening of this large gene possible.

Aim

This study aimed to identify the pathogenic variant in a consanguineous Pakistani family with autosomal recessive LGMD type 10.

Methods

DNA from peripheral blood samples were obtained, whole exome sequencing (WES) was performed and seve

SUBMITTER: Khan A 

PROVIDER: S-EPMC6819411 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature