A new missense mutation in caveolin-3 gene causes rippling muscle disease

Journal of the Neurological Sciences

Volumn 243, Issue 1-2, 2006, Pages 61-64

  Dotti, M Teresa ^a   Malandrini, Alessandro ^a   Gambelli, Simona ^a   Salvadori, Claudio ^a   De Stefano, Nicola ^a   Federico, Antonio ^a  

^a UNIVERSITY OF SIENA   (Italy)

Author keywords

Caveolin3; Molecular analysis; Muscle biopsy; Rippling muscle disease

Indexed keywords

CAVEOLIN 3;

ADULT; AGED; ANAMNESIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLINICAL FEATURE; FEMALE; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; IMMUNOFLUORESCENCE; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCLE DISEASE; PRIORITY JOURNAL;

ADULT; AGED; CAVEOLAE; CAVEOLIN 3; CHROMOSOME DISORDERS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE FIBERS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION, MISSENSE;

EID: 33645062404     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2005.11.032     Document Type: Article

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