Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis

Case report 3

Murray K. Dalinka, R. E. Brennan, Arthur S. Patchefsky · Skeletal Radiology · 1976 · 4.1K citations

Clinical Case Report, Law, Criminal Law +2

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

Carlo Minetti, Federica Sotgia, Claudio Bruno et al. · Nature Genetics · 1998 · 586 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

Caveolin-3 in muscular dystrophy

Elizabeth M. McNally · Human Molecular Genetics · 1998 · 228 citations · Full text

Caveolin Family, Cytoskeleton, Cellular Physiology +16

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

Regina C. Betz, Benedikt Schoser, Dagmar Kasper et al. · Nature Genetics · 2001 · 210 citations

Mechanobiology, Muscle Function, Muscle Injury +11

Caveolin-3 deficiency causes muscle degeneration in mice

Yuriko Hagiwara · Human Molecular Genetics · 2000 · 170 citations · Full text

Muscle Function, Molecular Physiology, Skeletal Muscle +9