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Article

Analytical validation of the amplification refractory mutation system polymerase chain reaction-capillary electrophoresis assay to diagnose spinal muscular atrophy.

Clinical chemistry and laboratory medicine - 26 Nov 2024

Yao Mei, Jiang Liya, Yan Yue, Yu Yicheng, Chen Yuwei, Wang Xiaoyi, Feng Yijie, Cui Yiqin, Zhou Dongming, Gao Feng, Mao Shanshan

Abstract excerpt

OBJECTIVES: Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by homozygous deletion and compound heterozygous mutations in survival motor neuron 1 (SMN1), with severity tied to the copy number of survival motor neuron 2 (SMN2). This study aimed to develop a rapid and comprehensive method for the diagnosis of SMA. METHODS: A total of 292 children with clinically suspected SMA and 394 family members...

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Share to Child, Preschool
Share to Electrophoresis, Capillary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Atrophy, Spinal

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Share to Survival of Motor Neuron 1 Protein

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Source

Identifiers

PMID: 38860968
DOI: 10.1515/cclm-2024-0334

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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