Literature DB >> 11431690

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

R C Betz1, B G Schoser, D Kasper, K Ricker, A Ramírez, V Stein, T Torbergsen, Y A Lee, M M Nöthen, T F Wienker, J P Malin, P Propping, A Reis, W Mortier, T J Jentsch, M Vorgerd, C Kubisch.   

Abstract

Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle. Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25. We found missense mutations in positional candidate CAV3 (encoding caveolin 3; ref. 5) in all five families analyzed. Mutations in CAV3 have also been described in limb-girdle muscular dystrophy type 1C (LGMD1C; refs. 6,7), demonstrating the allelism of dystrophic and non-dystrophic muscle diseases.

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Year:  2001        PMID： 11431690     DOI： 10.1038/90050

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  35 in total

Review 1.  Caveolin-deficient mice: insights into caveolar function human disease.

Authors:  B Razani; M P Lisanti
Journal:  J Clin Invest       Date:  2001-12       Impact factor: 14.808

Review 2.  Positive muscle phenomena--diagnosis, pathogenesis and associated disorders.

Authors:  Hans G Kortman; Jan H Veldink; Gea Drost
Journal:  Nat Rev Neurol       Date:  2012-01-24       Impact factor: 42.937

Review 3.  [Lipid lowering drug and other toxic myopathies].

Authors:  B G H Schoser; D Pongratz
Journal:  Internist (Berl)       Date:  2005-11       Impact factor: 0.743

4.  A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).

Authors:  Heather M McLaughlin; Reiko Sakaguchi; William Giblin; Thomas E Wilson; Leslie Biesecker; James R Lupski; Kevin Talbot; Jeffery M Vance; Stephan Züchner; Yi-Chung Lee; Marina Kennerson; Ya-Ming Hou; Garth Nicholson; Anthony Antonellis
Journal:  Hum Mutat       Date:  2011-11-09       Impact factor: 4.878

Review 5.  Caveolae, caveolins, and cavins: complex control of cellular signalling and inflammation.

Authors:  John H Chidlow; William C Sessa
Journal:  Cardiovasc Res       Date:  2010-03-03       Impact factor: 10.787

6.  Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.

Authors:  Savitha Shastry; Mauricio R Delgado; Eray Dirik; Mehmet Turkmen; Anil K Agarwal; Abhimanyu Garg
Journal:  Am J Med Genet A       Date:  2010-09       Impact factor: 2.802

7.  Simultaneous dystrophin and dysferlin deficiencies associated with high-level expression of the coxsackie and adenovirus receptor in transgenic mice.

Authors:  Christian A Shaw; Nancy Larochelle; Roy W R Dudley; Hanns Lochmuller; Gawiyou Danialou; Basil J Petrof; George Karpati; Paul C Holland; Josephine Nalbantoglu
Journal:  Am J Pathol       Date:  2006-12       Impact factor: 4.307

8.  Defects in caveolin-1 cause dilated cardiomyopathy and pulmonary hypertension in knockout mice.

Authors:  You-Yang Zhao; Yang Liu; Radu-Virgil Stan; Lian Fan; Yusu Gu; Nancy Dalton; Po-Hsien Chu; Kirk Peterson; John Ross; Kenneth R Chien
Journal:  Proc Natl Acad Sci U S A       Date:  2002-08-12       Impact factor: 11.205

9.  Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.

Authors:  Anna Rajab; Volker Straub; Liza J McCann; Dominik Seelow; Raymonda Varon; Rita Barresi; Anne Schulze; Barbara Lucke; Susanne Lützkendorf; Mohsen Karbasiyan; Sebastian Bachmann; Simone Spuler; Markus Schuelke
Journal:  PLoS Genet       Date:  2010-03-12       Impact factor: 5.917

Review 10.  [Limb girdle muscular dystrophies].

Authors:  J Finsterer
Journal:  Nervenarzt       Date:  2004-12       Impact factor: 1.214
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