Evidence map›Paper›PMID 42471599›Full record

ArticleBMC neurology2026

Genotype-phenotype relationship in a cohort of 131 Chinese patients with myotonic dystrophy type 1.

Li-Ying Pan, Jin-Wen Li, Hao Yu, Hai-Lin Dong, Sheng-Mei Zou, Zhi-Ying Wu, Gong-Lu Liu

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In one paragraph

Article in BMC neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Li-Ying Pan *Department of Medical Genetics and Center for Rare Diseases, Department of Neurology in Second Affiliated Hospital, Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Zhejiang University School of Medicine, Hangzhou, China.
Jin-Wen Li *Department of Medical Genetics and Center for Rare Diseases, Department of Neurology in Second Affiliated Hospital, Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Zhejiang University School of Medicine, Hangzhou, China.
Hao YuDepartment of Medical Genetics and Center for Rare Diseases, Department of Neurology in Second Affiliated Hospital, Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Zhejiang University School of Medicine, Hangzhou, China.
Hai-Lin DongDepartment of Medical Genetics and Center for Rare Diseases, Department of Neurology in Second Affiliated Hospital, Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Zhejiang University School of Medicine, Hangzhou, China.
Sheng-Mei ZouDepartment of Medical Genetics and Center for Rare Diseases, Department of Neurology in Second Affiliated Hospital, Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Zhejiang University School of Medicine, Hangzhou, China.
Zhi-Ying WuDepartment of Medical Genetics and Center for Rare Diseases, Department of Neurology in Second Affiliated Hospital, Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Zhejiang University School of Medicine, Hangzhou, China. zhiyingwu@zju.edu.cn.ORCID http://orcid.org/0000-0003-2106-572X
Gong-Lu LiuDepartment of Medical Genetics and Center for Rare Diseases, Department of Neurology in Second Affiliated Hospital, Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Zhejiang University School of Medicine, Hangzhou, China. gongluliu@zju.edu.cn.ORCID http://orcid.org/0000-0002-4047-5516

Funding

National Natural Science Foundation of China 822300620Natural Science Foundation of Zhejiang Province LY19H090023
6 · The paper itself

Abstract

introductionMyotonic dystrophy type 1 (DM1) is an autosomal dominant dynamic mutation disorder characterized by myotonia and muscle weakness. The genotype-phenotype relationship has not been clearly defined in Chinese patients.

methodsThe clinical and genetic characteristics of 131 patients from 105 pedigrees were retrospectively analyzed. Triplet-primed Polymerase Chain Reaction (PCR) and Flanking PCR were performed to analyze the CTG repeats in DMPK gene.

resultsAmong 131 DM1 patients, 64.9% were male, indicating a higher male admission rate, possibly due to limited diagnostic awareness in China. Notably, 11.5% of patients were not initially diagnosed in Neurology Department. The linear negative correlation between CTG repeat number and age of onset was no longer valid when CTG repeats exceeded approximately 400. Forced vital capacity (FVC) was negatively correlated with CTG repeat number, while no significant correlations were found with the Modified Scheltens score, creatine kinase, troponin T, lipid profile, glycosylated hemoglobin, fasting glucose, or BMI. In 16 families studied, CTG repeats expanded in 13 and contracted in 2. White matter lesions were detected in 97.9% of patients, predominantly in the supratentorial region, bilaterally affecting the frontal lobes, temporal poles, and deep white matter.

conclusionOur results provide insightful information on the clinical and genetic characteristics of the largest Chinese cohort of DM1 patients to date and clarify genotype-phenotype relationship.

Indexed as

Myotonic DystrophyMyotonin-Protein KinaseAdolescentAdultAgedChinaCohort StudiesEast Asian PeopleFemaleGenetic Association StudiesGenotypeHumansMaleMiddle AgedPhenotypeRetrospective StudiesDMPK protein, humanMyotonin-Protein KinaseChineseGenotypeMyotonic dystrophyPhenotypeWhite matter hyperintensities

Identifiers

PMID42471599
PMCPMC13660078

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