Evidence map›Paper›PMID 41726576›Full record

ArticlePediatric investigation2026

Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Pediatric investigation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors.

Jihang LuoChildren's Medical Center Peking University First Hospital Beijing China.
Yidan LiuChildren's Medical Center Peking University First Hospital Beijing China.
Danyu SongChildren's Medical Center Peking University First Hospital Beijing China.
Shiqi YangChildren's Medical Center Peking University First Hospital Beijing China.
Xiaona FuDepartment of Neurology Beijing Children's Hospital, Capital Medical University, National Center for Children's Health Beijing China.
Lin GeDepartment of Neurology Beijing Children's Hospital, Capital Medical University, National Center for Children's Health Beijing China.
Cuijie WeiChildren's Medical Center Peking University First Hospital Beijing China.
Liya CuiDepartment of Neurology Beijing Children's Hospital, Capital Medical University, National Center for Children's Health Beijing China.ORCID https://orcid.org/0009-0006-5577-2085
Yanbin FanChildren's Medical Center Peking University First Hospital Beijing China.
Huaxia LuoChildren's Medical Center Peking University First Hospital Beijing China.
Yanwei HeState Key Laboratory of Vascular Homeostasis and Remodeling The Institute of Cardiovascular Sciences School of Basic Medical Sciences Peking University Health Science Center Beijing China.
Jin XuLaboratory of Electron Microscopy Peking University First Hospital Beijing China.
Qiang ShenState Key Laboratory of Vascular Homeostasis and Remodeling The Institute of Cardiovascular Sciences School of Basic Medical Sciences Peking University Health Science Center Beijing China.
Yuxuan GuoState Key Laboratory of Vascular Homeostasis and Remodeling The Institute of Cardiovascular Sciences School of Basic Medical Sciences Peking University Health Science Center Beijing China.
Motoi KanagawaDepartment of Cell Biology and Molecular Medicine Ehime University Graduate School of Medicine Toon Japan.
Tatsushi TodaDepartment of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan.
Jingmin WangChildren's Medical Center Peking University First Hospital Beijing China.
Hong ZhangState Key Laboratory of Vascular Homeostasis and Remodeling The Institute of Cardiovascular Sciences School of Basic Medical Sciences Peking University Health Science Center Beijing China.
Hui XiongDepartment of Neurology Beijing Children's Hospital, Capital Medical University, National Center for Children's Health Beijing China.ORCID https://orcid.org/0000-0003-4138-2992

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Importance: Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of dystroglycan. Objective: To investigate Methods: Clinical and genetic data of pediatric patients with Results: Among the 16 patients studied, phenotypes ranged from severe muscle-eye-brain disease to milder limb-girdle muscular dystrophy. Twenty-one pathogenic variants were identified, including five novel variants. A recurrent exon 6-9 deletion emerged as the second most frequent variant (25.0%, 4/16), with haplotype analysis supporting a founder mutation in Chinese patients. At follow-up, most patients remained non-ambulatory, and one patient died of respiratory failure. Interpretation: This study broadens the

Indexed as

ChineseCRPPADystroglycanopathiesFounder mutationGenotype–phenotype correlation

Identifiers

PMID41726576
PMCPMC12921627

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.