ArticleBrain and behavior2019
A novel EMD mutation in a Chinese family with initial diagnosis of conduction cardiomyopathy.
Article in Brain and behavior, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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
5 citing papers in PubMed, 5 citations in OpenAlex.
- The Diverse Cellular Functions of Inner Nuclear Membrane Proteins.Cold Spring Harbor perspectives in biology · 2021Review
- A NovelCase reports in genetics · 2020Article
- Emery-Dreifuss muscular dystrophy: focal point nuclear envelope.Current opinion in neurology · 2019Review
- A novel EMD mutation in a Chinese family with initial diagnosis of conduction cardiomyopathy.Brain and behavior · 2019Article
- Targeted next-generation sequencing identified a knownHuman genome variation · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionEmery-Dreifuss muscular dystrophy (EDMD) is a hereditary myopathy characterized as triad of muscular dystrophy, joint contractures, and conduction cardiomyopathy. In this study, we diagnosed a X-linked recessive EDMD patient with severe conduction cardiomyopathy while noteless muscular and joint disorders.
methodsA Chinese cardiomyopathy family spanning four generations was enrolled in the study. Targeted next-generation sequencing (NGS) was performed to identify the underlying mutation in the proband and validated by Sanger sequencing. Segregation analysis was applied to all 13 participants.
resultsA novel frameshift mutation (c.253_254insT, p.Y85Lfs*8) of emerin gene (EMD) was found and co-segregated with family members. Other than the typical manifestations of X-linked EDMD, this patient presented inconspicuous muscular disorders which were later diagnosed after the mutation been identified.
conclusionsThis study enriches the EMD gene mutation database and reminds us of the possibility of EDMD while encountering patients with severe heart rhythm defects or dilated cardiomyopathy of unknown etiology, even if they have neither obvious skeletal muscle disorder nor joint involvement.
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.