Related Experiment Video
Updated: Jun 1, 2026

Tibial Nerve Transection - A Standardized Model for Denervation-induced Skeletal Muscle Atrophy in Mice
Published on: November 3, 2013
Unilateral calf atrophy secondary to a de novo mutation of the caveolin-3 gene
Manuel Arias Gómez1, Miguel Alberte-Woodwar, Susana Arias-Rivas
1Department of Neurology, Hospital Clínico Universitario de Santiago de Compostela, Travesía da Choupana s/n, Santiago de Compostela 15706, Spain. mariasg@meditex.es
Abstract:
A 23-year-old man was evaluated for atrophy of the left calf. He had a myopathic pattern on electromyography. Light microscopy showed dystrophic changes and reduced immunostaining for dysferlin and caveolin-3. The subsarcolemmal space was enlarged, and abnormal vesicles were visible with electron microscopy. A genetic study showed a heterozygous A45T mutation at exon 2 of the caveolin-3 gene. Such a mutation has been reported previously with limb-girdle muscular dystrophy type 1C and rippling muscle disease phenotypes.
Related Concept Videos
Cross-bridge Cycle
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Satellite Stem Cells and Muscular Dystrophy
Cardiomyopathy III: Hypertrophic Cardiomyopathy

