Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.

ABSTRACT:

Background and purpose

Mutations in collagen VI-related genes (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). These were previously believed to be separate disease entities, but they are now both classified as collagen VI-related myopathies, which cover a broad clinical spectrum. We aimed to analyze the clinical, pathologic, and genetic characteristics of patients with collagen VI-related myopathy in Korea.

Methods

We reviewed the clinical, pathologic, and genetic features in 22 patients with collagen VI-related myopathy from 13 families, as confirmed by genetic analysis of collagen VI-related genes.

Results

The mean ages of the 22 patients at first symptom presentation and diagnosis were 4.5 and 24.9 years, r

SUBMITTER: Lee JH 

PROVIDER: S-EPMC5653620 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature