A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients

• Main Authors: Van Khanh Tran (Author), My Ha Cao (Author), Thi Thanh Hai Nguyen (Author), Phuong Thi Le (Author), Hai Anh Tran (Author), Dung Chi Vu (Author), Ha Thu Nguyen (Author), Mai Thi Phương Nguyen (Author), The-Hung Bui (Author), Thanh Binh Nguyen (Author), Thanh Van Ta (Author), Thinh Huy Tran (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundPathogenic variants in the IGHMBP2 gene are associated with two distinct autosomal recessive neuromuscular disorders: spinal muscular atrophy with respiratory distress type 1 (SMARD1; OMIM #604320) and Charcot-Marie-Tooth type 2S (CMT2S; OMIM #616155). SMARD1 is a severe and fatal conditio...