title: Unilateral calf atrophy secondary to a de novo mutation of the caveolin-3 gene.
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.
authors.affiliation: Department of Neurology, Hospital Clínico Universitario de Santiago de Compostela, Travesía da Choupana s/n, Santiago de Compostela 15706, Spain. mariasg@meditex.es
authors.forename: Manuel
authors.initials: M
authors.lastname: Arias Gómez
authors.forename: Miguel
authors.initials: M
authors.lastname: Alberte-Woodwar
authors.forename: Susana
authors.initials: S
authors.lastname: Arias-Rivas
authors.forename: Dolores
authors.initials: D
authors.lastname: Dapena
authors.forename: Elena
authors.initials: E
authors.lastname: Pintos
authors.forename: Carmen
authors.initials: C
authors.lastname: Navarro
mesh_terms: D051244:Caveolin 3 / Q000235:genetics*; D006801:Humans; D007866:Leg / Q000473:pathology*; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D009133:Muscular Atrophy / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D055815:Young Adult
chemical_list: D051244:Caveolin 3