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Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Molenaar JP, Verhoeven JI, Rodenburg RJ, Kamsteeg EJ, Erasmus CE, Vicart S, Behin A, Bassez G, Magot A, Péréon Y, Brandom BW, Guglielmi V, Vattemi G, Chevessier F, Mathieu J, Franques J, Suetterlin K, Hanna MG, Guyant-Marechal L, Snoeck MM, Roberts ME, Kuntzer T, Fernandez-Torron R, Martínez-Arroyo A, Seeger J, Kusters B, Treves S, van Engelen BG, Eymard B, Voermans NC, Sternberg D. Molenaar JP, et al. 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
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