Related Experiment Video
Updated: Aug 15, 2026

05:53
Low-Cost Gait Analysis for Behavioral Phenotyping of Mouse Models of Neuromuscular Disease
Published on: July 18, 2019
Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation
Ricardo E Madrid1, Christian Kubisch, Arthur P Hays
1New York State Institute for Basic Research in Developmental Disabilities, George A. Jervis Clinic, Staten Island, NY, USA. ricardo.madrid@omr.state.ny.us
Neurology
|October 26, 2005
Abstract:
The authors describe a family with autosomal dominant rippling muscle disease (RMD) and prominent early-onset toe walking. Molecular analysis revealed a novel heterozygous G > A transition at nucleotide position 136 in exon 2 of the caveolin-3 gene (CAV3). The role of Achilles tendon lengthening in more severe forms of RMD is discussed.

