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Page 1
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 muscle stiffness of …
Brody disease is an autosomal recessive myopathy characterized by exercise-induced muscle stiffness due to mutations in the AT …
SERCA pumps and human diseases.
Hovnanian A. Hovnanian A. Subcell Biochem. 2007;45:337-63. doi: 10.1007/978-1-4020-6191-2_12. Subcell Biochem. 2007. PMID: 18193643 Review.
Defects in ATP2A1 encoding SERCA1 cause recessive Brody myopathy, mutations in ATP2A2 coding for SERCA2 underlie a dominant skin disease, Darier disease and its clinical variants. ...
Defects in ATP2A1 encoding SERCA1 cause recessive Brody myopathy, mutations in ATP2A2 coding for SERCA2 underlie a dominant sk …
Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait: A Case Series of 9 Children.
Verhoeven JI, Kramer J, Seeger J, Molenaar JP, Braakman H, Kamsteeg EJ, Rodenburg RJ, Kusters B, Koudijs S, Van Engelen BG, Erasmus CE, Voermans NC. Verhoeven JI, et al. Neurology. 2024 Mar 12;102(5):e209164. doi: 10.1212/WNL.0000000000209164. Epub 2024 Feb 19. Neurology. 2024. PMID: 38373275
Brody disease is a rare autosomal recessive myopathy, caused by pathogenic variants in the ATP2A1 gene. ...We describe the clinical and genetic features of 9 children from 6 families with Brody disease. All presented with exercise-induced delayed relax …
Brody disease is a rare autosomal recessive myopathy, caused by pathogenic variants in the ATP2A1 gene. ...We describe the cli …
Disturbed Ca2+ Homeostasis in Muscle-Wasting Disorders.
Avila G. Avila G. Adv Exp Med Biol. 2018;1088:307-326. doi: 10.1007/978-981-13-1435-3_14. Adv Exp Med Biol. 2018. PMID: 30390258 Review.
Accordingly, alterations in these systems can lead to weakness and atrophy in many hereditary diseases, such as Brody disease, central core disease (CCD), tubular aggregate myopathy (TAM), myotonic dystrophy type 1 (MD1), oculopharyngeal muscular dystrophy (OPMD), a …
Accordingly, alterations in these systems can lead to weakness and atrophy in many hereditary diseases, such as Brody disease, …
Calcium regulation and muscle disease.
Gommans IM, Vlak MH, de Haan A, van Engelen BG. Gommans IM, et al. J Muscle Res Cell Motil. 2002;23(1):59-63. doi: 10.1023/a:1019984714528. J Muscle Res Cell Motil. 2002. PMID: 12363286 Review.
In MH an acute increase of Ca2+ results in excessive muscle contraction causing rigidity, while in CCD a chronic rise of cytosolic Ca2+ is seen, leading to mitochondrial damage, disorganization of myofibrils and muscle weakness. In Brody disease and also in mitochon …
In MH an acute increase of Ca2+ results in excessive muscle contraction causing rigidity, while in CCD a chronic rise of cytosolic Ca2+ is s …
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.
Masingue M, Arzel M, Sternberg D, Stojkovic T, Behin A, Bassez G, Vicart S, Péréon Y, Magot A, Kuntzer T, Eymard B, Fournier E. Masingue M, et al. Muscle Nerve. 2020 Apr;61(4):491-495. doi: 10.1002/mus.26809. Epub 2020 Jan 22. Muscle Nerve. 2020. PMID: 31944327
INTRODUCTION: Brody myopathy (BM) is a recessive condition caused by mutations in the ATP2A1 gene and usually induces impaired muscle relaxation during and after exercise. ...
INTRODUCTION: Brody myopathy (BM) is a recessive condition caused by mutations in the ATP2A1 gene and usually induces impaired …
Ca2+ signalling and muscle disease.
MacLennan DH. MacLennan DH. Eur J Biochem. 2000 Sep;267(17):5291-7. doi: 10.1046/j.1432-1327.2000.01566.x. Eur J Biochem. 2000. PMID: 10951187 Free article. Review.
Loss of SERCA1a Ca2+ pump function is one cause of exercise-induced impairment of the relaxation of skeletal muscle, in Brody disease. Phospholamban expressed in cardiac muscle and sarcolipin expressed in skeletal muscle regulate SERCA activity. ...
Loss of SERCA1a Ca2+ pump function is one cause of exercise-induced impairment of the relaxation of skeletal muscle, in Brody dise …
Abnormal intracellular ca(2+)homeostasis and disease.
Missiaen L, Robberecht W, van den Bosch L, Callewaert G, Parys JB, Wuytack F, Raeymaekers L, Nilius B, Eggermont J, De Smedt H. Missiaen L, et al. Cell Calcium. 2000 Jul;28(1):1-21. doi: 10.1054/ceca.2000.0131. Cell Calcium. 2000. PMID: 10942700 Review.
Skeletal-muscle pathology can be caused by mutations in ryanodine receptors (malignant hyperthermia, porcine stress syndrome, central-core disease), dihydropyridine receptors (familial hypokalemic periodic paralysis, malignant hyperthermia, muscular dysgenesis) or Ca(2+)pumps ( …
Skeletal-muscle pathology can be caused by mutations in ryanodine receptors (malignant hyperthermia, porcine stress syndrome, central-core d …
Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients.
Voermans NC, Laan AE, Oosterhof A, van Kuppevelt TH, Drost G, Lammens M, Kamsteeg EJ, Scotton C, Gualandi F, Guglielmi V, van den Heuvel L, Vattemi G, van Engelen BG. Voermans NC, et al. Neuromuscul Disord. 2012 Nov;22(11):944-54. doi: 10.1016/j.nmd.2012.03.012. Epub 2012 Jun 15. Neuromuscul Disord. 2012. PMID: 22704959
Brody disease is a rare inherited myopathy due to reduced sarcoplasmic reticulum Ca(2+) ATPase (SERCA)1 activity caused by mutations in ATP2A1, which causes delayed muscle relaxation and silent cramps. ...We aim to compare the clinical features of patients with B …
Brody disease is a rare inherited myopathy due to reduced sarcoplasmic reticulum Ca(2+) ATPase (SERCA)1 activity caused by mut …
40 results