ReviewCurrent neurology and neuroscience reports2014
Distal myopathies.
Review in Current neurology and neuroscience reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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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
11 citing papers in PubMed, 38 citations in OpenAlex.
- Review
- Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures.Molecular genetics & genomic medicine · 2024Review
- Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination.Journal of neurology · 2020Article
- Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region.Orphanet journal of rare diseases · 2019Review
- Slowly progressive distal muscle weakness: neuropathy or myopathy?BMJ case reports · 2019Article
- RYR1 causing distal myopathy.Molecular genetics & genomic medicine · 2017Article
- Genome engineering: a new approach to gene therapy for neuromuscular disorders.Nature reviews. Neurology · 2017Review
- "Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders.Journal of neuromuscular diseases · 2016Review
- When myopathy breaks the rules: a late-onset distal presentation.BMJ case reports · 2015Article
- Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy.PloS one · 2015Article
- Myofibrillar Myopathy Mimicking Polyneuropathy.Case reports in neurologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Advanced molecular genetic possibilities have made it possible to clarify and delineate an ever growing number of distinct new disease entities in the group of distal myopathies. These diseases share the clinical features of preferential muscle weakness in the feet and/or hands, and as they are genetic disorders that lead to progressive loss of muscle tissue they can also be called distal muscular dystrophies. More than 20 entities are currently identified and many are still waiting for genetic characterisation. No final diagnosis can be made on other grounds than by the molecular genetic defect. Besides the usual investigations, including electromyography and muscle biopsy, muscle imaging is very important in defining the precise pattern of muscle involvement. Based on the combination of age at onset, mode of inheritance, pathology and muscle imaging, the list of possible underlying genes can be tracked down to minimal number allowing for specific genetic testing.
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.