Vishal Murthy

1 week ago | onlinelibrary.wiley.com | Sabrina N. Hoehne |Vishal Murthy |Steven Epstein |Kate Hopper

Conflicts of Interest Dr. Epstein is an Assistant Editor of the Journal but only participated in the peer review process as an author. Sabrina N. Hoehne is a member of the RECOVER Initiative research committee and CPR registry data quality manager. The RECOVER Initiative is a not-for-profit organization, the author's services are being provided on a volunteer basis, and she will not have any financial gain from the publication of this study. The other authors declare no conflicts of interest.

Sep 14, 2023 | onlinelibrary.wiley.com | Vishal Murthy |Annie Chen |Katie M. Minor |Leanne Jankelunas

bp base pair CMDs congenital muscular dystrophies SNP single nucleotide polymorphism 1 INTRODUCTION Ullrich congenital muscular dystrophy (CMD) is a human disease characterized by muscle weakness, proximal joint contractures, and hyperlaxity of the distal joints.1 In humans, this disease shows a mostly autosomal recessive and rarely autosomal dominant inheritance pattern and is associated with variants in the COL6A1, COL6A2, or COL6A3 genes with severity of clinical signs being associated...