Evidence map›Paper›PMID 41341687›Full record

ArticleThe application of clinical genetics2025

Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy.

Qingyue Yuan, Chang Liu, Yanyu Lu, Xu Han, Zhaoxia Wang, Yun Yuan, Zhiying Xie

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Article in The application of clinical genetics, 2025. 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.

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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.

Qingyue YuanDepartment of Neurology, Peking University First Hospital, Beijing, 100034, People's Republic of China.ORCID 0009-0009-6931-727X
Chang LiuDepartment of Neurology, Peking University First Hospital, Beijing, 100034, People's Republic of China.
Yanyu LuDepartment of Neurology, Peking University First Hospital, Beijing, 100034, People's Republic of China.
Xu HanDepartment of Neurology, Peking University First Hospital, Beijing, 100034, People's Republic of China.
Zhaoxia WangDepartment of Neurology, Peking University First Hospital, Beijing, 100034, People's Republic of China.
Yun Yuan *Department of Neurology, Peking University First Hospital, Beijing, 100034, People's Republic of China.
Zhiying Xie *Department of Neurology, Peking University First Hospital, Beijing, 100034, People's Republic of China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Pathogenic variants in the Methods: To elucidate his phenotype-genotype discordance, muscle biopsy and subsequent dystrophin protein and mRNA analyses were conducted, followed by long-read sequencing of Results: Muscle biopsy revealed a dystrophic pattern and negative expression of dystrophin-N and dystrophin-C. The Conclusion: This case underscores the necessity of a stepwise molecular analysis strategy for the interpretation of phenotype-genotype discordance in dystrophinopathy. This stepwise diagnostic approach is essential for accurately characterizing

Indexed as

dystrophinopathyphenotype-genotype discordancereading-frame rule

Identifiers

PMID41341687
PMCPMC12669050

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