Abstract
Lambert and Goldstein [1] published an abstract in 1957, describing a patient with impaired muscle relaxation, mimicking myotonia, in whom electromyographic recording of contracted muscles was “silent”. In 1969, Brody [2] published the first complete description of a patient who exhibited impaired muscle relaxation. He was the first to show impaired Ca2+-uptake by sarcoplasmic reticulum isolated from the muscle of his patient.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Lambert EH, Goldstein NP (1957) Unusual form of myotonia. Physiologist 1:51 (abstract)
Brody IA (1969) Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor. N Engl J Med 281:187–192
Karpati G, Charuk J, Carpenter S, Jablecki C, Holland P (1986) Myopathy caused by a deficiency of Ca2+- adenosine triphosphatase in sarcoplasmic reticulum (Brody’s disease). Ann Neurol 20:38–49
Britt BA (1984) Dantrolene. Can Anaesth Soc J 31:61–75
Danon MJ, Karpati G, Charuk J, Holland P (1988) Sarcoplasmic reticulum adenosine triphosphatase deficiency with probable autosomal dominant inheritance. Neurology 38:812–815
Taylor DJ, Brosnan MJ, Arnold DL et al (1988) Ca2+- ATPase deficiency in a patient with an exertional muscle pain syndrome. J Neurol Neursurg Psychiatry 51:1425–1433
Hui CS, Milton RL, Eisenberg RS (1984) Charge movement in skeletal muscle fibers paralysed by the calcium-entry blocker D600. Proc Natl Acad Sci USA 81:2582–2585
Benders AA, Veerkamp JH, Oosterhof A et al (I 994) Calf homeostasis in Brody’s disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene and verapamil. J Clin Invest 94:741–748
Ebashi S, Endo M, Otsuki I (1969) Control of muscle contraction. Q Rev Biophys 2:351–384
Zot AS, Potter JD (1987) Structural aspects of troponin-tropomyosin regulation of skeletal muscle contraction. Annu Rev Biophys Chem 16:535–559
Burk SE, Lytton J, MacLennan DH, Shull GE (1989) cDNA cloning, functional expression, and mRNA tissue distribution of a third organellar Ca2 +pump. J Biol Chem 264:18561–18568
Brandl CJ, deLeon S, Martin DR, MacLennan DH (1987) Adult forms of the Ca2 +ATPase of sarcoplasmic reticulum. Expression in developing skeletal muscle. J Biol Chem 262:3768–3774
Lytton J, Zarain-Herzberg A, Periasamy M, MacLennan DH (1989) Molecular cloning of the mammalian smooth muscle sarco(endo)plasmic reticulum Ca2 +- ATPase. J Biol Chem 264:7059–7065
Poch E, Leach S, Snape S, Cacic T, MacLennan DH, Lytton J (1998) Functional characterization of alternatively spliced human SERCA3 transcripts. Am J Physiol 275(6 Pt 1):C1449–1458
Wu KD, Lee WS, Wey J, Bungard D, Lytton J (1995) Localization and quantification of endoplasmic reticulum Ca(2+) - ATPase isoform transcripts. Am J Physiol 269(3 Pt 1):C775–784
Zhang Y, Fujii J, Phillips MS et al (1995) Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+) - ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease. Genomics 30:415–424
Callen DF, Baker E, Lane S et al (1991) Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12. Am J Hum Genet 49:1372–1377
Odermatt A, Taschner PE, Khanna VK et al (1996) Mutations in the gene-encoding SERCAI, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2 +ATPase, are associated with Brody disease. Nat Genet 14:191–194
Odermatt S, Taschner PE, Scherer SE et al (1997) Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. Genomics 45:541–553
Odermatt A, Becker S, Khanna VK et al (1998) Sarcolipin regulates the activity of SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2 +- ATPase. J Biol Chem 273:12360–12369
Wevers RA, Poels P7, Joosten EM, Steenbergen GG, Benders AA, Veerkamp JH (1992) Ischemic forearm testing in a patient with Ca(2+) - ATPase deficiency. J Inherit Metab Dis 15:423–425
Poels PJ, Wevers RA, Braakhekke JP, Benders AA, Veerkamp JH, Joosten EM (1993) Exertional rhabdomyolysis in a patient with calcium adenosine triphosphatase deficiency. J Neurol Neurosurg Psychiatry 56:823–826
van der Knaap MS, Benders AA, Veerkamp GH, Smit LME (1998) Early-onset Brody’s disease. XIV Journee Internationales de Pathologie Neuromusculaire de Marseille
Brostrom O, Hunkeler FL, Krebseg (1971) The relation of skeletal muscle phosphorylase kinase by Ca2+. J Biol Chem 246:1961–1967
Berridge MJ, Bootman MD, Lipp P (1998) Calcium: a life and death signal [news]. Nature 395(6703):645–648
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1999 Springer-Verlag France
About this chapter
Cite this chapter
Karpati, G., MacLennan, D.H. (1999). Brody’s Syndrome: a Disorder of Calcium Uptake by the Sarcoplasmic Reticulum. In: Serratrice, G., Pouget, J., Azulay, JP. (eds) Exercise Intolerance and Muscle Contracture. Springer, Paris. https://doi.org/10.1007/978-2-8178-0855-0_4
Download citation
DOI: https://doi.org/10.1007/978-2-8178-0855-0_4
Publisher Name: Springer, Paris
Print ISBN: 978-2-287-59669-8
Online ISBN: 978-2-8178-0855-0
eBook Packages: Springer Book Archive