Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.

ABSTRACT: Background: Collagen VI-related disorder (COLVI-RD) is one of the most common congenital muscular dystrophies. However, data is limited in China. Methods: We conducted a retrospective study at two tertiary centers. Clinical presentations, lab findings (including serum creatine kinase levels), muscle biopsy, and molecular test results for patients diagnosed with definite COLVI-RD were collected. Results: A total of 82 patients were enrolled in the study, including 4 with early-severe Ullrich congenital muscular dystrophy (E-S UCMD) (4.8%), 45 with moderate-progressive Ullrich congenital muscular dystrophy (M-P UCMD, 54.9%), 19 with mild UCMD (23.2%), and 14 with Bethlem myopathy (BM, 17.1%). Feeding difficulty, DDH, and neurogenic damage were more common in E-S and M-P

SUBMITTER: Hu C 

PROVIDER: S-EPMC11918884 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature