Recurrent COL3A1 mutation results in EDS IV or familial aneurysms

✍ Scribed by David W. Anderson; Smita Thakker-Varia; Catherine A. Stolle

• Book ID: 101258557
• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 84 KB
• Volume: 9
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1997)9:5<475::aid-humu18>3.0.co;2-#

✦ Synopsis

Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of this gene (Roberts et al., 1994).