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Attention Score in Context
| Title |
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes
|
|---|---|
| Published in |
Human Mutation, July 2002
|
| DOI | 10.1002/humu.10098 |
| Pubmed ID | |
| Authors |
Rachel L. Robinson, Collin Brooks, Sarah L. Brown, F. Richard Ellis, P. Jane Halsall, Rupert J. Quinnell, Marie‐Anne Shaw, Philip M. Hopkins |
| Abstract |
Malignant hyperthermia (MH) and central core disease (CCD) are autosomal dominant disorders of skeletal muscle. Susceptibility to MH is only apparent after exposure to volatile anesthetics and/or depolarizing muscle relaxants. CCD patients present with diffuse muscular weakness but are also at risk of MH. Mutations in RYR1 (19q13.1), encoding a skeletal muscle calcium release channel (ryanodine receptor), account for the majority of MH and CCD cases. Fifteen RYR1 N-terminal mutations are considered causative of MH susceptibility, five of which are also associated with CCD. In the first extensive UK population survey, eight of 15 mutations were detected in 85 out of 297 (29%) unrelated MH susceptible cases, with G2434R detected in 53 cases (18%). Mutation type was shown to affect significantly MH phenotypes (in vitro contracture test (IVCT) response to caffeine, halothane, and ryanodine). RYR1 mutations associated with both CCD and MH (R163C, R2163H, R2435H) had more severe caffeine and halothane response phenotypes than those associated with MH alone. Mutations near the amino terminal (R163C, G341R) had a relatively greater effect on responses to caffeine than halothane, with a significantly increased caffeine:halothane tension ratio compared to G2434R of the central domain. All phenotypes were more severe in males than females, and were also affected by muscle specimen size and viability. Discordance between RYR1 genotype and IVCT phenotype was observed in seven families (nine individuals), with five false-positives and four false-negatives. This represents the most extensive study of MH patient clinical and genetic data to date and demonstrates that RYR1 mutations involved in CCD are those associated with one end of the spectrum of MH IVCT phenotypes. |
Mendeley readers
The data shown below were compiled from readership statistics for 27 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Japan | 1 | 4% |
| Unknown | 26 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 6 | 22% |
| Student > Bachelor | 5 | 19% |
| Student > Master | 5 | 19% |
| Professor > Associate Professor | 3 | 11% |
| Professor | 3 | 11% |
| Other | 3 | 11% |
| Unknown | 2 | 7% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 26% |
| Agricultural and Biological Sciences | 6 | 22% |
| Medicine and Dentistry | 5 | 19% |
| Neuroscience | 3 | 11% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 7% |
| Other | 1 | 4% |
| Unknown | 3 | 11% |
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 26 October 2023.
All research outputs
#8,882,501
of 25,837,817 outputs
Outputs from Human Mutation
#1,118
of 3,048 outputs
Outputs of similar age
#17,152
of 48,892 outputs
Outputs of similar age from Human Mutation
#6
of 19 outputs
Altmetric has tracked 25,837,817 research outputs across all sources so far. This one is in the 42nd percentile – i.e., 42% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,048 research outputs from this source. They receive a mean Attention Score of 4.9. This one is in the 30th percentile – i.e., 30% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 48,892 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 10th percentile – i.e., 10% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 19 others from the same source and published within six weeks on either side of this one. This one is in the 5th percentile – i.e., 5% of its contemporaries scored the same or lower than it.