Evidence map›Paper›PMID 35153971›Full record

ArticleFrontiers in neurology2021

One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families.

Yongzhi Xie, Zhiqiang Lin, Xiaobo Li, Lei Liu, Shunxiang Huang, Huadong Zhao, Binghao Wang, Wanqian Cao, Zhengmao Hu, Jifeng Guo and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.8field-weighted citation impact, top 35% of its field
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

6 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Review
  6. 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

13 authors at 2 institutions in 1 country.

Yongzhi XieDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Zhiqiang LinDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Xiaobo LiDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Lei LiuDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Shunxiang HuangDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Huadong ZhaoDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Binghao WangDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Wanqian CaoDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Zhengmao HuHunan Key Laboratory of Medical Genetics, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Jifeng GuoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Lu ShenDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Beisha TangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Ruxu ZhangDepartment of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Central South University · CNThird Xiangya Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

aimsCharcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited peripheral neuropathies. The wide phenotypic variability may not be completely explained by a single mutation. AIMS AND

methodsTo explore the existence of concomitant variants in CMT, we enrolled 189 patients and performed molecular diagnosis by application of next-generation sequencing combined with multiplex ligation-dependent probe amplification. We conducted a retrospective analysis of patients harboring coinherited variants in different genes.

resultsFour families were confirmed to possess variants in two genes, accounting for 2.1% (4/189) of the total in our cohort. One CMT1 patient with

conclusionOur results suggest that the possibility of concomitant variants was not uncommon and should be considered when significant intrafamilial clinical heterogeneity is observed.

Indexed as

Charcot-Marie-Tooth diseasesconcomitant variantsdouble troublegenetic modifierintrafamilial clinical heterogeneity

Identifiers

PMID35153971
PMCPMC8831722
OpenAlexW4210711479

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.