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Article

[Spinal muscular atrophy mimicking myotonic dystrophy: a case report and clinical, pathological and genetic analysis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2012

Luo Li-xia, Pan Qian, Xia Kun, Tang Bei-sha, Jiang Hong

Abstract excerpt

OBJECTIVE: To investigate a patient featuring a complex neuromuscular disease phenotype. METHODS: A comprehensive analysis integrating clinical investigation, electrophysiological testing, pathological analysis and mutation screening was carried out. RESULTS: The patient has presented clinical and pathological manifestations mimicking Duchenne muscular dystrophy. However, genetic analysis has identified no...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22875506
DOI: 10.3760/cma.j.issn.1003-9406.2012.04.017

Genes

DMPK

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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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