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

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...

Full description

Saved in:
Bibliographic Details
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:
Online Access:Connect to this object online.
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

Connect to this object online.

3rd Floor Main Library

Holdings details from 3rd Floor Main Library
Call Number: A1234.567
Copy 1 Available