ArticleArchives of disease in childhood1994
De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).
Article in Archives of disease in childhood, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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.
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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.
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Who cites it
7 citing papers in PubMed, 31 citations in OpenAlex.
- De Novo Facioscapulohumeral Muscular Dystrophy: A Severe Subtype Driven by D4Z4 Repeat Contractions.Neurology. Genetics · 2026Article
- Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.Genes · 2023Article
- A multinational study on motor function in early-onset FSHD.Neurology · 2018Article
- Expression patterns of FSHD-causing DUX4 and myogenic transcription factors PAX3 and PAX7 are spatially distinct in differentiating human stem cell cultures.Skeletal muscle · 2017Article
- Article
- [Facioscapulohumeral muscular dystrophy. Clinical picture, atypical forms, diagnostics, genetics].Der Nervenarzt · 2011Article
- Camptocormia phenotype of FSHD: a clinical and MRI study on six patients.Journal of neurology · 2011Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant condition with variable age of onset and severity. Identification of a de novo DNA fragment by probe p13E-11 (D4F104S1) established the diagnosis of new mutation FSHD in 27 of 31 sporadic cases. The clinical data for these certain new mutation cases were as follows: 13 boys, 14 girls; mean age of onset 6.8 years; significant leg weakness in 19/27 (70%) (8/27 (30%) used wheelchairs at a mean age of 17.7 years); high tone sensorineural deafness in 10/27; visual acuity and direct ophthalmoscopy were normal. Congenital facial diplegia and sensorineural deafness in three children suggest that infantile FSHD is not a genetically separate disorder from FSHD. Ascertainment bias may explain the difference in severity between this group and typical familial cases. Molecular analysis for FSHD should be considered in children with either congenital or early onset facial weakness or diplegia.
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Registered trials
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