Genetic defects are common in myopathies with tubular aggregates.

ABSTRACT:

Objective

A group of genes have been reported to be associated with myopathies with tubular aggregates (TAs). Many cases with TAs still lack of genetic clarification. This study aims to explore the genetic background of cases with TAs in order to improve our knowledge of the pathogenesis of these rare pathological structures.

Methods

Thirty-three patients including two family members with biopsy confirmed TAs were collected. Whole-exome sequencing was performed on 31 unrelated index patients and a candidate gene search strategy was conducted. The identified variants were confirmed by Sanger sequencing. The wild-type and the mutant p.Ala11Thr of ALG14 were transfected into human embryonic kidney 293 cells (HEK293), and western blot analysis was performed to quantify protein e

SUBMITTER: Gang Q 

PROVIDER: S-EPMC8791796 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature