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Article

The Caveolin-3 P104L mutation of LGMD-1C leads to disordered glucose metabolism in muscle cells.

Biochemical and biophysical research communications - 29 Apr 2017

Deng Yu Feng, Huang Yi Yuan, Lu Wen Sheng, Huang Yuan Heng, Xian Jing, Wei Hong Qiao, Huang Qin

Abstract excerpt

Caveolin-3 (CAV3) is a muscle specific protein that plays an important role in maintaining muscle health and glucose homeostasis in vivo. A novel autosomal dominant form of LGMD-1C in humans is due to a P104L mutation within the coding sequence of the human CAV3 gene. The mechanism by which the LGMD-1C mutation leads to muscle weakness remains unknown. Our objective was to determine whether muscle weakness was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28232187
DOI: 10.1016/j.bbrc.2017.02.072

Genes

CAV3
CAV1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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