Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families

Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families

Abstract Objective Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing 5q and non-5q forms, causing muscle weakness and atrophy due to spinal cord cell degeneration. Understanding its genetic basis is crucial for genetic counseling and personalized treatment options. Methods This s...

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Bibliographic Details
Main Authors: Shanshan Gao, Duo Chen, Qianqian Li, Xuechao Zhao, Chen Chen, Lina Liu, Miao Jiang, Zhenhua Zhao, Yanhua Wang, Xiangdong Kong
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Spinal muscular atrophy
5q SMA
Non-5q SMA
SMN1 gene
Genetic diagnosis
Prenatal diagnosis
Online Access:https://doi.org/10.1186/s13023-024-03523-0
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