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

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...

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Main Authors: Van Khanh Tran, My Ha Cao, Thi Thanh Hai Nguyen, Phuong Thi Le, Hai Anh Tran, Dung Chi Vu, Ha Thu Nguyen, Mai Thi Phương Nguyen, The-Hung Bui, Thanh Binh Nguyen, Thanh Van Ta, Thinh Huy Tran
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-02-01
Series:Frontiers in Pediatrics
Subjects:
IGHMBP2
neuromuscular disorders
SMARD1
CMT2S
Charcot–Marie–Tooth type 2S
spinal muscular atrophy with respiratory distress type 1
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1165492/full

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https://www.frontiersin.org/articles/10.3389/fped.2024.1165492/full

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