Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.M1I
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CAV3

NM_033337.3:p.M1I

Associated Papers

Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.

Kubisch C et al.

Annals of Neurology, 2005

Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.

Figarella-Branger D et al.

Neurology, 2003

Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.

Tateyama M et al.

Neurology, 2002

A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.

Vorgerd M et al.

Neurology, 2001

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

Carbone I et al.

Neurology, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."