Associated Papers
Clinical Phenotype Spectrum in Two Large Chinese Families With Rippling Muscle Disease Caused by CAV-3 c.80G>A.
Shen Y et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies.
Magi S et al.
Journal of Biomedical Science, 2017
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F et al.
Bmc Neurology, 2015
26404900 (PubMed )
Supplement: 12883_2015_428_MOESM1_ESM.pdf
Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers.
Sundblom J et al.
Muscle & Nerve, 2010
Rippling muscle disease: variable phenotype in a family with five afflicted members.
Jacobi C et al.
Muscle & Nerve, 2010
Two novel CAV3 gene mutations in Japanese families.
Sugie K et al.
Neuromuscular Disorders : Nmd, 2004
A CAV3 microdeletion differentially affects skeletal muscle and myocardium.
Cagliani R et al.
Neurology, 2003
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