ArticleDer Nervenarzt2011
[Facioscapulohumeral muscular dystrophy. Clinical picture, atypical forms, diagnostics, genetics].
Article in Der Nervenarzt, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
- Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update.Orphanet journal of rare diseases · 2021Review
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The classic phenotype of the facioscapulohumeral muscular dystrophy (FSHD) includes an initially restricted pattern of asymmetric weakness of facial and shoulder girdle muscles. Disease progression is usually slow and typically accompanied by foot extensor muscle weakness and pelvic girdle weakness. Atypical patterns of FSHD that include isolated camptocormia and facial muscle sparing exceed current diagnostic criteria. No causal genetic lesion in FSHD has been identified yet. In the vast majority of cases, FSHD results from a heterozygous partial deletion of a critical number of repetitive elements (D4Z4) on chromosome 4q35 (4qA allele). Molecular diagnostic testing is appropriate to confirm the diagnosis of FSHD without need for muscle biopsy. Penetrance of this dominantly inherited disorder is high, exhibiting a great phenotypic variability in clinical pattern and disease progression even among affected members of the same family.
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Identifiers
21567298What 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.