Evidence map›Paper›PMID 33381940›Full record

ArticleYonsei medical journal2021

Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea.

Jung Hwan Lee, Hyung Jun Park, Moon Woo Seong, Sung Sup Park, Young Chul Choi

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

Article in Yonsei medical journal, 2021. 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, top 87% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

5 authors at 2 institutions in 1 country.

Jung Hwan LeeDepartment of Neurology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.ORCID https://orcid.org/0000-0002-0040-7236
Hyung Jun ParkDepartment of Neurology, Yonsei University College of Medicine, Seoul, Korea.ORCID https://orcid.org/0000-0003-4165-8901
Moon Woo SeongDepartment of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.ORCID https://orcid.org/0000-0003-2954-3677
Sung Sup ParkDepartment of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.ORCID https://orcid.org/0000-0003-3754-4848
Young Chul ChoiDepartment of Neurology, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yuhs.ac.ORCID https://orcid.org/0000-0001-5525-6861
Yonsei University · KRSeoul National University Hospital · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by weakness of facial, shoulder, abdominal, hip girdle, humeral, and anterior distal leg muscles, with descending progression from the face to the legs in an asymmetric pattern. In about 5% of patients with FSHD, no D4Z4 repeat contraction on chromosome 4q35 is observed; this disease entity is called FSHD2. FSHD2 is characterized by DNA hypomethylation on the 4q-subtelomeric macrosatellite repeat array D4Z4. In Korea, there have been no previous reports of FSHD2. We report the first two cases of FSHD2 in Korea, carrying c.3801delG and c.1580C>T mutations in the

Indexed as

AdultChromosomes, Human, Pair 4DNA MethylationFemaleHaplotypesHumansMaleMicrosatellite RepeatsMuscular Dystrophy, FacioscapulohumeralMutationRepublic of KoreaDNA methylationFacioscapulohumeral muscular dystrophyhigh-throughput nucleotide sequencing

Identifiers

PMID33381940
PMCPMC7820446
OpenAlexW3113627197

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.