Evidence map›Paper›PMID 42395056›Full record

ArticleJCEM case reports2026

Hypophosphatasia and collagen VI-related muscular dystrophy presenting with gait disturbance and recurrent fractures.

Yu Jin Im, Young Bae Sohn, Yong Jun Choi, Mi-Ae Jang, Duk Hyun Sung, Yoon-Sok Chung

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in JCEM case reports, 2026. 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

6 authors.

Yu Jin ImDepartment of Physical Medicine and Rehabilitation, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, South Korea.ORCID https://orcid.org/0000-0002-3284-3024
Young Bae SohnDepartment of Medical Genetics, Ajou University Medical Center, Ajou University School of Medicine, Suwon 16499, South Korea.
Yong Jun ChoiDepartment of Endocrinology and Metabolism, Ajou University Medical Center, Ajou University School of Medicine, Suwon 16499, South Korea.ORCID https://orcid.org/0000-0003-3960-8470
Mi-Ae JangDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, South Korea.
Duk Hyun SungDepartment of Physical Medicine and Rehabilitation, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, South Korea.
Yoon-Sok ChungDepartment of Endocrinology and Metabolism, Ajou University Medical Center, Ajou University School of Medicine, Suwon 16499, South Korea.ORCID https://orcid.org/0000-0003-0179-4386

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Proximal muscle weakness is a recognized feature of hypophosphatasia (HPP), although significant structural muscle pathology is not typically observed. We report a 48-year-old woman with a 20-year history of progressive gait disturbance, proximal muscle weakness (Medical Research Council grade 2-4), and recurrent low-trauma fractures. Laboratory evaluation revealed persistently low serum alkaline phosphatase, and genetic testing identified a heterozygous likely pathogenic variant in

Indexed as

collagen VI–related muscular dystrophygait disturbancehypophosphatasiamuscle MRImuscle ultrasonography

Identifiers

PMID42395056
PMCPMC13323799

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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.