A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia-Reference-Cited by-同舟云学术

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A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia

Published:2004-05 Issue:5 Volume:14 Page:321-324
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Alias Laura,Gallano Pı́a,Moreno Dolores,Pujol Ramón,Martı́nez-Matos Juan Antonio,Baiget Montserrat,Ferrer Isidro,Olivé Montse

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference11 articles.

1. Caveolae and caveolin-3 in muscular dystrophy;Galbiati;Trends Mol Med,2001

2. Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle;Tang;J Biol Chem,1996

3. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy;Minetti;Nat Genet,1998

4. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase;Carbone;Neurology,2000

5. Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene;Merlini;J Neurol Neurosurg Psychiatry,2002

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families;Neuropathology and Applied Neurobiology;2020-09-28

2. Deciphering caveolar functions by syndapin III KO-mediated impairment of caveolar invagination;eLife;2017-12-05

3. Computational analysis unravels novel destructive single nucleotide polymorphisms in the non-synonymous region of human caveolin gene;Gene Reports;2017-03

4. CAV3 mutation in a patient with transient hyperCKemia and myalgia;Neurologia i Neurochirurgia Polska;2016-11

5. Role of aquaglyceroporins and caveolins in energy and metabolic homeostasis;Molecular and Cellular Endocrinology;2014-11

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