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Article

Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing.

The Journal of molecular diagnostics : JMD - 1 May 2024

Wang Ningning, Jiao Kexin, He Jin, Zhu Bochen, Cheng Nachuan, Sun Jian, Chen Lan, Chen Wanjin, Gong Lingyun, Qiao Kai, Xi Jianying, Wu Qihan, Zhao Chongbo, Zhu Wenhua

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder primarily caused by the deletion or mutation of the survival motor neuron 1 (SMN1) gene. This study assesses the diagnostic potential of long-read sequencing (LRS) in three patients with SMA. For Patient 1, who has a heterozygous SMN1 deletion, LRS unveiled a missense mutation in SMN1 exon 5. In Patient 2, an Alu/Alu-mediated...

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Identifiers

PMID: 38490302
DOI: 10.1016/j.jmoldx.2024.02.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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