| 1 | CAV3, LGMD1C
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| The Caveolin-3 P104L mutation of LGMD-1C leads to disordered glucose metabolism in muscle cells.
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| Deng Y, Huang Y, Lu W, Huang Y, Xian J, Wei H, Huang Q.
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| Biochem Biophys Res Commun iochem Biophys Res Commun. 2017 Feb 20. pii: S0006-291X(17)30353-4. doi: 10.1016/j.bbrc.2017.02.072. [Epub ahead of print]
2017
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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, 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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| 4 | LGMD1C, CAV3
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| Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.
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| Hayashi T, Arimura T, Ueda K, Shibata H, Hohda S, Takahashi M, Hori H, Koga Y, Oka N, Imaizumi T, Yasunami M, Kimura A.
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| Biochem Biophys Res Commun 313(1):178-84. 2004
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| 5 | LGMD1C, CAV3
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| Two novel CAV3 gene mutations in Japanese families.
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| Sugie K, Murayama K, Noguchi S, Murakami N, Mochizuki M, Hayashi YK, Nonaka I, Nishino I.
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| Neuromuscul Disord 14(12):810-4. 2004
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| 6 | CAV3, LGMD1C
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| Mutations in the caveolin-3 gene: When are they pathogenic?
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| de Paula F, Vainzof M, Bernardino AL, McNally E, Kunkel LM, Zatz M.
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| Am J Med Genet 99(4):303-7. 2001
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| 7 | CAV3, LGMD1C
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| Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.
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| Herrmann R, Straub V, Blank M, Kutzick C, Franke N, Jacob EN, Lenard HG, Kroger S, Voit T.
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| Hum Mol Genet 9(15):2335-40. 2000
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| 8 | 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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| 9 | CAV3, LGMD1C
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| Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex.
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| Galbiati F, Volont D, Minetti C, Chu JB, Lisanti MP.
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| J Biol Chem 274(36):25632-41 1999
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| 10 | CAV3, LGMD1C
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| Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.
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| Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F.
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| Nat Genet 18(4):365-8. 1998
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