Article
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
Annals of neurology - 1 Jul 2016
O'Grady Gina L, Lek Monkol, Lamande Shireen R, Waddell Leigh, Oates Emily C, Punetha Jaya, Ghaoui Roula, Sandaradura Sarah A, Best Heather, Kaur Simranpreet, Davis Mark, Laing Nigel G, Muntoni Francesco, Hoffman Eric, MacArthur Daniel G, Clarke Nigel F, Cooper Sandra, North Kathryn
Abstract excerpt
OBJECTIVE: To evaluate the diagnostic outcomes in a large cohort of congenital muscular dystrophy (CMD) patients using traditional and next generation sequencing (NGS) technologies. METHODS: A total of 123 CMD patients were investigated using the traditional approaches of histology, immunohistochemical analysis of muscle biopsy, and candidate gene sequencing. Undiagnosed patients available for further testing...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.