Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1.

Authors:
Zhong H; Zeng L; Yu X; Ke Q; Dong J and 17 more

Journal:
Orphanet J Rare Dis

Publication Year: 2024

DOI:
10.1186/s13023-024-03114-z

PMCID:
PMC10918885

PMID:
38454488

Journal Information

Full Title: Orphanet J Rare Dis

Abbreviation: Orphanet J Rare Dis

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Medicine

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
4/6
66.7% Transparent
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Evidence found in paper:

"Declarations Ethics approval and consent to participateThe study was approved by the ethic committee of Huashan Hospital and other participating hospitals (2020–008) and registered on clinicaltrials.gov (NCT06101940). Written informed consent was acquired from every participant according to the Declaration of Helsinki. Consent for publicationAll authors have consented to the publication of this manuscript. Competing interestsThe authors declare that they have no competing interests. Competing interests The authors declare that they have no competing interests."

Evidence found in paper:

"Funding This study was funded by China’s National Key R&D Program (No. 2022YFC3501303, 2022YFC3501305), National Natural Science Foundation of China (No. 82071410, 82001335), Shanghai Municipal Science and Technology Major Project (No.2018SHZDZX01), and ZJLab."

Evidence found in paper:

"Patients with DM1 were enrolled from January 2020 to April 2023 through the collaborative efforts of the Pan-Yangtze River Delta Alliance for Neuromuscular Disorders (PYDAN) network in China [–]. Written informed consent to be included in the study was obtained from all patients. The study was approved by the ethics committee of Huashan Hospital (2020–008) and other participating hospitals and was registered on clinicaltrials.gov (NCT06101940). The clinical diagnosis of DM1 was based on classical clinical presentations, electromyography, and family history. Declarations: Ethics approval and consent to participateThe study was approved by the ethic committee of Huashan Hospital and other participating hospitals (2020–008) and registered on clinicaltrials.gov (NCT06101940). Written informed consent was acquired from every participant according to the Declaration of Helsinki.: Consent for publicationAll authors have consented to the publication of this manuscript.: Competing interestsThe authors declare that they have no competing interests. Ethics approval and consent to participate: The study was approved by the ethic committee of Huashan Hospital and other participating hospitals (2020–008) and registered on clinicaltrials.gov (NCT06101940). Written informed consent was acquired from every participant according to the Declaration of Helsinki."

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Last Updated: Aug 05, 2025