COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.

ABSTRACT:

Background

Collagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy, multiple contractures of joints, distal hyperextensibility, severe respiratory dysfunction and cutaneous alterations, attributable to mutations in the COL6A1, COL6A2, and COL6A3 genes. However, no case of collagen VI mutations with hematuria has been reported. We report a 14-year-old boy who had both Bethlem myopathy and recurrent hematuria and who carried a known de novo COL6A1 missense mutation c.877G > A (p.G293R).

Case presentation

The patient was a 14-year-old boy presenting with muscle weakness from 3 years of age without any family history. Six months before admission, he developed recurrent gross hematuria, three bouts in total, with the presenc

SUBMITTER: Bao M 

PROVIDER: S-EPMC6390614 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature