| 1 | CAV3, RMD2
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| Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle.
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| Ullrich ND, Fischer D, Kornblum C, Walter MC, Niggli E, Zorzato F, Treves S.
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| Hum Mutat 32(3):309-17. doi: 10.1002/humu.21431.
2011
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| 2 | CAV3, LGMD1C, LQT9, RMD2
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| Caveolinopathies: from the biology of caveolin-3 to human diseases.
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| Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C.
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| Eur J Hum Genet 18(2):137-45. Epub 2009 Jul 8. Review. Erratum in: Eur J Hum Genet. 2009 Dec;17(12):1692. PMID: 19584897 2010
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| 3 | CAV3, RMD2
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| Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers.
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| Sundblom J, Stċlberg E, Osterdahl M, Rücker F, Montelius M, Kalimo H, Nennesmo I, Islander G, Smits A, Dahl N, Melberg A.
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| Muscle Nerve 41(6):751-7.PMID: 20229577 2010
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| 4 | CAV3, RMD2
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| Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.
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| Catteruccia M, Sanna T, Santorelli FM, Tessa A, Di Giacopo R, Sauchelli D, Verbo A, Lo Monaco M, Servidei S.
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| Neuromuscul Disord 19(11):779-83. Epub 2009 Sep 20.PMID: 1977316 2009
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| 5 | CAV3, RMD2
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| Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease.
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| Traverso M, Bruno C, Broccolini A, Sotgia F, Donati MA, Assereto S, Gazzerro E, Lo Monaco M, Modoni A, D'Amico A, Gasperini S, Ricci E, Zara F, Lisanti M, Minetti C.
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| J Neurol Neurosurg Psychiatry 79(6):735-7. No abstract available. PMID: 18487559 2008
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| 6 | CAV3, RMD2
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| Caveolinopathy--new mutations and additional symptoms.
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| Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V.
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| Neuromuscul Disord 18(7):572-8. Epub 2008 Jun 25.
2008
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| 7 | CAV3, RMD2
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| Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis.
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| Ueyama H, Horinouchi H, Obayashi K, Hashinaga M, Okazaki T, Kumamoto T.
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| Neuromuscul Disord 17(7):558-61. Epub 2007 May 29.
2007
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| 8 | CAV3, LGMD1C, RMD2
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| CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.
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| Reijneveld JC, Ginjaar IB, Frankhuizen WS, Notermans NC.
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| Muscle Nerve 34(5):656-8. 2006
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| 9 | CAV3, RMD2
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| Caveolin-3 inhibits growth signal in cardiac myoblasts in a Ca2+-dependent manner.
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| Fujita T, Otsu K, Oshikawa J, Hori H, Kitamura H, Ito T, Umemura S, Minamisawa S, Ishikawa Y.
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| J Cell Mol Med 10(1):216-24. 2006
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| 10 | CAV3, RMD2
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| A new missense mutation in caveolin-3 gene causes rippling muscle disease.
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| Dotti MT, Malandrini A, Gambelli S, Salvadori C, De Stefano N, Federico A.
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| J Neurol Sci 243(1-2):61-4. Epub 2006 Feb 3. 2006
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| 11 | CAV3, RMD2
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| Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.
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| Madrid RE, Kubisch C, Hays AP.
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| Neurology 65(8):1301-3. 2005
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| 12 | CAV3, RMD2
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| Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
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| Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyama Y, Itoyoma Y.
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| Neurology 58(2):323-5. Erratum in: Neurology 2002 Mar 12;58(5):839. 2002
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| 13 | CAV3, RMD2
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| Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
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| Betz RC, Schoser BG, Kasper D, Ricker K, Ramirez A, Stein V, Torbergsen T, Lee YA, Nothen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C.
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| Nat Genet 28(3):218-9. 2001
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| 14 | CAV3, RMD2
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| A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
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| Vorgerd M, Ricker K, Ziemssen F, Kress W, Goebel HH, Nix WA, Kubisch C, Schoser BG, Mortier W.
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| Neurology 57(12):2273-7. 2001
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| 15 | CAV3, LGMD1C, RMD2
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| Limb-girdle muscular dystrophy (LGMD-1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation. Treatment with proteasomal inhibitors blocks the dominant negative effect of LGMD-1C mutanta and rescues wild-type caveolin-3.
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| Galbiati F, Volonte D, Minetti C, Bregman DB, Lisanti MP.
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| J Biol Chem 275(48):37702-11. 2000
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