Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

ABSTRACT:

Background

Limb-girdle muscular dystrophies are characterized by predominant involvement of the shoulder and pelvic girdle and trunk muscle groups. Currently, there are 31 genes implicated in the different forms of limb-girdle muscular dystrophies, which exhibit similar phenotypes and clinical overlap; therefore, advanced molecular techniques are required to achieve differential diagnosis.

Methods

We investigated 26 patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 565 healthy unrelated controls from general and ethnic populations using our developed test kit based on the Illumina VeraCode GoldenGate genotyping platform, Ion AmpliSeq Inherited Disease Panel and direct sequencing of mutations in calpain

SUBMITTER: Inashkina I 

PROVIDER: S-EPMC4855345 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature