Evidence map›Paper›PMID 39973468›Full record

ArticleJournal of neuromuscular diseases2024

Mutational and clinical spectrum of myofibrillar myopathy in one center from China.

Qi Wang, Peng Sun, Meng Yu, Zhiying Xie, Jiaxi Yu, Xiujuan Liu, Daojun Hong, He Lv, Jianwen Deng, Yun Yuan and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuromuscular diseases, 2024. 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. 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

12 authors.

Qi WangDepartment of Neurology, Peking University First Hospital, Beijing, China.
Peng SunDepartment of Neurology, Peking University First Hospital, Beijing, China.
Meng YuDepartment of Neurology, Peking University First Hospital, Beijing, China.
Zhiying XieDepartment of Neurology, Peking University First Hospital, Beijing, China.
Jiaxi YuDepartment of Neurology, Peking University First Hospital, Beijing, China.
Xiujuan LiuDepartment of Neurology, Peking University First Hospital, Beijing, China.
Daojun HongDepartment of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.
He LvDepartment of Neurology, Peking University First Hospital, Beijing, China.
Jianwen DengDepartment of Neurology, Peking University First Hospital, Beijing, China.
Yun YuanDepartment of Neurology, Peking University First Hospital, Beijing, China.
Zhaoxia WangDepartment of Neurology, Peking University First Hospital, Beijing, China.
Wei ZhangDepartment of Neurology, Peking University First Hospital, Beijing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMyofibrillar myopathy (MFM) is a heterogeneous group of neuromuscular disorders characterized by degeneration of Z-disk and disintegration of myofibrils.

objectiveWe aimed to analyze the mutational spectrum and phenotypic features of MFM in China.

methodsWe used targeted next generation sequencing (NGS) to identify causative mutations in 39 MFM patients with confirmed myopathological diagnosis.

resultsThe results showed that variants were found in six MFM-associated genes, including CONLUSION: We concluded that MFM showed a highly variable genetic spectrum, with

Indexed as

MutationMyopathies, Structural, CongenitalAdaptor Proteins, Signal TransducingAdolescentAdultApoptosis Regulatory ProteinsChildChild, PreschoolChinaConnectinDesminFemaleHumansMaleMiddle AgedPhenotypeAdaptor Proteins, Signal TransducingApoptosis Regulatory ProteinsBAG3 protein, humanConnectinDesminTTN protein, humanChinagenotypemyofibrillar myopathyphenotype

Identifiers

PMID39973468
PMCPMC13108010

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.