ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2015
Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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
6 citing papers in PubMed, 14 citations in OpenAlex.
- A novelFrontiers in genetics · 2025Article
- Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Review
- Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy.Molecular therapy. Nucleic acids · 2022Article
- MYH7 mutation associated with two phenotypes of myopathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2018Article
- DNM2 mutations in Chinese Han patients with centronuclear myopathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2016Article
- Mouse myofibers lacking the SMYD1 methyltransferase are susceptible to atrophy, internalization of nuclei and myofibrillar disarray.Disease models & mechanisms · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the dynamin-2 (DNM2) gene can cause autosomal dominant or sporadic centronuclear myopathy (CNM). We aimed to analyze the clinical, pathological and genetic characteristic of patients with DNM2-related CNM in China. We studied seven patients, all of whom underwent clinical examination, muscle biopsy, electromyography, and genetic tests. DNM2 gene analysis revealed two sporadic patients harboring the p.E368K mutation, two patients from one family carrying p.R369Q, one with p.R369W, one with p.R523G and one with compound heterozygous mutations of p.R522H and p.R718Q. In DNM2-related CNM, ptosis, ophthalmoplegia/paresis, and facial weakness are the frequently observed manifestations. However, among these seven patients, only one had bilateral ptosis; one, external ophthalmoplegia and one, facial weakness. Muscle biopsy showed that the percentage of muscle fibers with centrally located nuclei ranged from 67 to 93 %, all with radial sarcoplasmic strands. To date, five different CNM-related DNM2 mutations have been observed in China. Here, a patient with compound heterozygous DNM2 mutations was reported for the first time. Facial weakness, ptosis and ophthalmoplegia did not appear to be common in Chinese patients. This study on Chinese patients broadens the spectrum of DNM2-related CNM.
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.