Evidence map›Paper›PMID 41331696›Full record

ReviewActa neurologica Belgica2025

From SGCE gene to symptoms: decoding myoclonus-dystonia.

Xiaoxue Peng, Xiaoyang Lei, Lang Yang, Dian He

Abstract readReview
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In one paragraph

Review in Acta neurologica Belgica, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

4 authors.

Xiaoxue PengDepartment of Neurology, The Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou Province, China.
Xiaoyang LeiDepartment of Neurology, The Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou Province, China.
Lang YangDepartment of Neurology, The Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou Province, China.
Dian HeDepartment of Neurology, The Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou Province, China. hedian@gmc.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Myoclonus-Dystonia (M-D) is a rare autosomal dominant disorder predominantly characterized by myoclonus and focal or segmental dystonia. Symptoms typically onset during childhood and are often triggered by specific postures or actions. SGCE gene mutations are the main cause of M-D. The SGCE gene is located on the chromosomal region 7q21 and encodes the ε-sarcoglycan protein. Inheritance follows a paternal transmission pattern with maternal imprinting. Although studies on M-D have expanded, the pathophysiological mechanisms remain to be fully elucidated. To better understand the comprehensive review of SGCE-related M-D (SGCE-M-D), this article focuses on its the clinical manifestations, molecular genetics, pathophysiological mechanisms, and therapeutic strategies in SGCE-M-D. Additionally, we present a schematic illustrating the distribution of SGCE gene variants at the amino acid level.

Indexed as

Amino acid variant mapMyoclonic jerkingMyoclonus-dystoniaPathophysiological mechanismSGCE gene

Identifiers

PMID41331696

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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.