Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1999 | 1 |
2010 | 1 |
2020 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Brain. 2020 Feb 1;143(2):452-466. doi: 10.1093/brain/awz410.
Brain. 2020.
PMID: 32040565
Free PMC article.
Brody disease is an autosomal recessive myopathy characterized by exercise-induced muscle stiffness due to mutations in the ATP2A1 gene. ...This observational study shows that the main feature of Brody disease is an exercise-induced mu …
Brody disease is an autosomal recessive myopathy characterized by exercise-induced muscle stiffness due to mutat …
A case of paramyotonia congenita without periodic paralysis: electrophysiological and molecular genetic studies.
Park JH, Lee YW, Park SA, Lee TK, Rho HJ, Sung KB.
Park JH, et al.
Neurologist. 2010 May;16(3):203-5. doi: 10.1097/NRL.0b013e3181a3cb6c.
Neurologist. 2010.
PMID: 20445432
Paramyotonia congenita (PC), first described in 1886 by Eulenberg, is characterized by cold and exercise-induced muscle stiffness and intermittent flaccid paresis not necessarily related to cold or myotonia. ...
Paramyotonia congenita (PC), first described in 1886 by Eulenberg, is characterized by cold and exercise-induced muscle …
Item in Clipboard
Occult presentation of myotonia congenita in a 15-year-old athlete.
Weinberg J, Curl LA, Kuncl RW, McFarland EG.
Weinberg J, et al.
Am J Sports Med. 1999 Jul-Aug;27(4):529-31. doi: 10.1177/03635465990270042101.
Am J Sports Med. 1999.
PMID: 10424227
Myotonia congenita should be considered in the differential diagnosis of athletes with exercise-induced muscle "stiffness" or "cramping," particularly if the course is protracted and initial examinations are unremarkable. ...
Myotonia congenita should be considered in the differential diagnosis of athletes with exercise-induced muscle "stif …
Item in Clipboard
Cite
Cite