Characteristic findings of skeletal muscle MRI in caveolinopathies

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

Natural Sciences, Genetics, Molecular Genetics +16

TREAT-NMD workshop: Pattern recognition in genetic muscle diseases using muscle MRI

Volker Straub, Pierre G. Carlier, Eugenio Mercuri · Neuromuscular Disorders · 2012 · 106 citations

Medicine, Genetics, Neurology +17

Consequences of a novel caveolin‐3 mutation in a large German family

Dirk Fischer, Anja Schroers, Ingmar Blümcke et al. · Annals of Neurology · 2003 · 82 citations

Medicine, Genetics, Molecular Genetics +15

Caveolinopathy – New mutations and additional symptoms

A. Aboumousa, Jessica E. Hoogendijk, Richard Charlton et al. · Neuromuscular Disorders · 2008 · 66 citations

Life Sciences, Genetics, Neurology +11

Phenotypic variability in rippling muscle disease

Matthias Vorgerd, Hanno J. Bolz, T. Patzold et al. · Neurology · 1999 · 65 citations

Life Sciences, Genetics, Neurology +14