Peter B Kang, Magali Jorand-Fletcher, Wanfang Zhang, Suzanne W McDermott, Reba Berry, Chelsea Chambers, Kristen N Wong, Yara Mohamed, Shiny Thomas, Y Swamy Venkatesh, Christina Westfield, Nedra Whitehead, Nicholas E Johnson
BACKGROUND AND OBJECTIVES: To report the genetic etiologies of Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), congenital muscular dystrophy (CMD), and distal muscular dystrophy (DD) in 6 geographically defined areas of the United States. METHODS: This was a cross-sectional, population-based study in which we studied the genes and variants associated with muscular dystrophy in individuals who were diagnosed with and received care for EDMD, LGMD, CMD, and DD from January 1, 2008, through December 31, 2016, in the 6 areas of the United States covered by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR net )...
December 2023: Neurology. Genetics