| Title |
Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophy
|
|---|---|
| Published in |
Journal of Neurology, October 2009
|
| DOI | 10.1007/s00415-009-5346-5 |
| Pubmed ID | |
| Authors |
Juan J. Figueroa, John E. Chapin |
| Abstract |
We report two elderly siblings with atypical myopathic weakness due to facioscapulohumeral dystrophy (FSHD). The proband presented with isolated facial diplegia, and her brother developed late onset facial and limb-girdle weakness. Both siblings had a 4q35 deletion with the same residual fragment size (25 kb) confirming FSHD. This report highlights the clinical heterogeneity and intrafamily variability of FSHD. |
Mendeley readers
The data shown below were compiled from readership statistics for 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 10 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 2 | 20% |
| Student > Master | 2 | 20% |
| Student > Doctoral Student | 1 | 10% |
| Student > Ph. D. Student | 1 | 10% |
| Unknown | 4 | 40% |
| Readers by discipline | Count | As % |
|---|---|---|
| Nursing and Health Professions | 2 | 20% |
| Medicine and Dentistry | 2 | 20% |
| Neuroscience | 1 | 10% |
| Agricultural and Biological Sciences | 1 | 10% |
| Unknown | 4 | 40% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 03 June 2012.
All research outputs
#7,453,479
of 22,786,691 outputs
Outputs from Journal of Neurology
#1,774
of 4,475 outputs
Outputs of similar age
#33,228
of 93,173 outputs
Outputs of similar age from Journal of Neurology
#11
of 21 outputs
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