ArticleWorld journal of clinical cases2022
Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report.
Article in World journal of clinical cases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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.
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.
Who cites it
2 citing papers in PubMed, 1 citations in OpenAlex.
- Prevalence of Rare Diseases in Consanguineous Marriages: A Case of Ullrich Muscular Dystrophy in a Resource-Limited Setting.Clinical case reports · 2026Article
- The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in theInternational journal of molecular sciences · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundUllrich congenital muscular dystrophy (UCMD) is one of the collagen-VI-related myopathies caused by mutations of CASE SUMMARY: A 3-year-old boy, his 4-year-old brother, their parents, and a 20-wk-old fetus in the mother's womb were included in the study. The brothers had the typical manifestations of the early-severe subtype: A delayed motor milestone (never walking independently), torticollis, scoliosis, proximal joint contracture, distal joint hyperextension, right hip joint dislocation, and calcaneal protuberance. Both brothers were found by whole-exome sequencing and Sanger sequencing to carry two mutations of the
conclusionWe report a Chinese family suffering from UCMD. By clarifying the
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.