Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation

Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation

Abstract Background Spinal muscular atrophy, lower extremity predominant (SMALED) is a type of non-5q spinal muscular atrophy characterised by weakness and atrophy of lower limb muscles without sensory abnormalities. SMALED1 can be caused by dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene variants...

Full description

Bibliographic Details
Main Authors: Yazhao Mei, Yunyi Jiang, Zhenlin Zhang, Hao Zhang
Format: Article
Language:English
Published: BMC 2023-03-01
Series:BMC Medical Genomics
Subjects:
DYNC1H1
SMALED1
Whole-exome sequencing
Sanger sequencing
Bone metabolism
Online Access:https://doi.org/10.1186/s12920-023-01472-4

Internet

https://doi.org/10.1186/s12920-023-01472-4

Similar Items