Evidence map›Paper›PMID 39539755›Full record

ArticleNeurology. Genetics2024

Disease Progression of GNE Myopathy and Its Relationship With Genotype: A Retrospective, Observational Study in Chinese Patients.

Haozhe Sun, Fuze Zheng, Jiaxi Yu, Lingchao Meng, Qiang Gang, He Lv, Wei Zhang, Yun Yuan, Meng Yu, Zhaoxia Wang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Observational
  2. [Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025
    Review
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

10 authors.

Haozhe SunFrom the Department of Neurology (H.S., F.Z., J.Y., L.M., Q.G., H.L., W.Z., Y.Y., M.Y., Z.W.), Peking University First Hospital; Beijing Key Laboratory of Neurovascular Disease Discovery (M.Y., Z.W.); and Key Laboratory for Neuroscience (M.Y., Z.W.), Ministry of Education/National Health Commission, Peking University, Beijing, China.
Fuze ZhengFrom the Department of Neurology (H.S., F.Z., J.Y., L.M., Q.G., H.L., W.Z., Y.Y., M.Y., Z.W.), Peking University First Hospital; Beijing Key Laboratory of Neurovascular Disease Discovery (M.Y., Z.W.); and Key Laboratory for Neuroscience (M.Y., Z.W.), Ministry of Education/National Health Commission, Peking University, Beijing, China.
Jiaxi YuFrom the Department of Neurology (H.S., F.Z., J.Y., L.M., Q.G., H.L., W.Z., Y.Y., M.Y., Z.W.), Peking University First Hospital; Beijing Key Laboratory of Neurovascular Disease Discovery (M.Y., Z.W.); and Key Laboratory for Neuroscience (M.Y., Z.W.), Ministry of Education/National Health Commission, Peking University, Beijing, China.
Lingchao MengFrom the Department of Neurology (H.S., F.Z., J.Y., L.M., Q.G., H.L., W.Z., Y.Y., M.Y., Z.W.), Peking University First Hospital; Beijing Key Laboratory of Neurovascular Disease Discovery (M.Y., Z.W.); and Key Laboratory for Neuroscience (M.Y., Z.W.), Ministry of Education/National Health Commission, Peking University, Beijing, China.
Qiang GangFrom the Department of Neurology (H.S., F.Z., J.Y., L.M., Q.G., H.L., W.Z., Y.Y., M.Y., Z.W.), Peking University First Hospital; Beijing Key Laboratory of Neurovascular Disease Discovery (M.Y., Z.W.); and Key Laboratory for Neuroscience (M.Y., Z.W.), Ministry of Education/National Health Commission, Peking University, Beijing, China.
He LvFrom the Department of Neurology (H.S., F.Z., J.Y., L.M., Q.G., H.L., W.Z., Y.Y., M.Y., Z.W.), Peking University First Hospital; Beijing Key Laboratory of Neurovascular Disease Discovery (M.Y., Z.W.); and Key Laboratory for Neuroscience (M.Y., Z.W.), Ministry of Education/National Health Commission, Peking University, Beijing, China.
Wei ZhangFrom the Department of Neurology (H.S., F.Z., J.Y., L.M., Q.G., H.L., W.Z., Y.Y., M.Y., Z.W.), Peking University First Hospital; Beijing Key Laboratory of Neurovascular Disease Discovery (M.Y., Z.W.); and Key Laboratory for Neuroscience (M.Y., Z.W.), Ministry of Education/National Health Commission, Peking University, Beijing, China.
Yun YuanFrom the Department of Neurology (H.S., F.Z., J.Y., L.M., Q.G., H.L., W.Z., Y.Y., M.Y., Z.W.), Peking University First Hospital; Beijing Key Laboratory of Neurovascular Disease Discovery (M.Y., Z.W.); and Key Laboratory for Neuroscience (M.Y., Z.W.), Ministry of Education/National Health Commission, Peking University, Beijing, China.
Meng YuFrom the Department of Neurology (H.S., F.Z., J.Y., L.M., Q.G., H.L., W.Z., Y.Y., M.Y., Z.W.), Peking University First Hospital; Beijing Key Laboratory of Neurovascular Disease Discovery (M.Y., Z.W.); and Key Laboratory for Neuroscience (M.Y., Z.W.), Ministry of Education/National Health Commission, Peking University, Beijing, China.
Zhaoxia WangFrom the Department of Neurology (H.S., F.Z., J.Y., L.M., Q.G., H.L., W.Z., Y.Y., M.Y., Z.W.), Peking University First Hospital; Beijing Key Laboratory of Neurovascular Disease Discovery (M.Y., Z.W.); and Key Laboratory for Neuroscience (M.Y., Z.W.), Ministry of Education/National Health Commission, Peking University, Beijing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Studies on the natural disease progression of detailed motor dysfunction in patients with GNE myopathy are rare. This study aimed to investigate motor function involvement during disease progression and its relationship with the genotype among Chinese patients with GNE myopathy. Methods: This retrospective observational cohort study included all patients with genetically confirmed GNE myopathy enrolled at Peking University First Hospital between 2000 and 2023. Patients with GNE myopathy were stratified into 2 subgroups based on with or without p.D207V mutation. Data on clinically significant muscular problems were collected from patients' medical history and follow-up assessments to evaluate motor function using the GNE Myopathy Functional Activity Scale and the modified Rankin Scale. Results: Eighty-three patients with GNE myopathy were included, with a median age at examination of 36 years (range 25-57) and a median age at onset (AAO) of 26 years (range 16-46). The Kaplan-Meier curves revealed that patients with the p.D207V mutation experienced a significantly later AAO (27 years [95% CI 25-29]) and onset age of wheelchair dependency (50 years [95% CI 46-54]) compared with those without the mutation, who had an AAO of 24 years (95% CI 22-26) and an onset age of wheelchair dependency of 45 years (95% CI 36-54). Multivariate Cox regression analysis, adjusted for sex and disease duration, revealed that patients without the p.D207V mutation had a higher risk of wheelchair dependency, with an adjusted hazard ratio of 2.361 (95% CI 1.030-5.411). Barthel indexes (BIs) were negatively correlated with the disease duration and positively correlated with AAOs. Patients with GNE with earlier AAO exhibited a shorter disease duration of developing functional dependency (BIs <60) than did those with later AAOs. Discussion: Our results provide insights into the motor function involvement observed during disease progression in Chinese patients with GNE myopathy, and relatively mild disease severity was observed in those with the p.D207V mutation.

Identifiers

PMID39539755
PMCPMC11558541

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