Evidence map›Paper›PMID 39143067›Full record

ArticleHuman genome variation2024

Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report.

Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2024. 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

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

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

12 authors.

Kenta HanadaDepartment of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan. m10080kh@jichi.ac.jp.
Yusuke OsakiDepartment of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Ryosuke MiyamotoDepartment of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.ORCID http://orcid.org/0000-0001-6434-9541
Kohei MutoDepartment of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Shotaro HajiDepartment of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Keyoumu NazereDepartment of Medical Genetics, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Yuki KuwanoDepartment of Medical Genetics, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Hiroyuki MorinoDepartment of Medical Genetics, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.ORCID http://orcid.org/0000-0002-5190-3547
Yoshiteru AzumaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Satoko MiyatakeDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.ORCID http://orcid.org/0000-0001-7587-5168
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Yuishin IzumiDepartment of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). We report a patient exhibiting an intermediate phenotype between these diseases associated with a novel MORC2 variant. A literature review revealed that the genotype‒phenotype correlation in MORC2-related disorders is complex and that the same mutation can cause a variety of phenotypes.

Identifiers

PMID39143067
PMCPMC11324651

What Socratic 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 Socratic graph.