Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

ABSTRACT:

Objective

The aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on two different chromosomes; and to highlight the underappreciated complex forms of genetic myopathies.

Patients and methods

Clinical and laboratory data of three unrelated probands with predominantly distal weakness manifesting in the sixth-seventh decade of life, and available affected and unaffected family members were reviewed. Next-generation sequencing panel, whole exome sequencing, and targeted analyses of family members were performed to elucidate the genetic etiology of the myopathy.

Results

Genetic analyses de

SUBMITTER: Niu Z 

PROVIDER: S-EPMC5868303 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature