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...
Saved in:
Main Authors: | , , , , , , , , , , , |
---|---|
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
Call Number: |
A1234.567 |
---|---|
Copy 1 | Available |