Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease.

Traverso, M; Bruno, C; Broccolini, A; Sotgia, F; Donati, M A; Assereto, S; Gazzerro, E; Lo Monaco, M; Modoni, A; D'Amico, A; Gasperini, S; Ricci, E; Zara, F; Lisanti, M; Minetti, C

Traverso, M; Bruno, C; Broccolini, A; Sotgia, F; Donati, M A; Assereto, S; Gazzerro, E; Lo Monaco, M; Modoni, A; D'Amico, A; Gasperini, S; Ricci, E; Zara, F; Lisanti, M; Minetti, C.

J Neurol Neurosurg Psychiatry ; 79(6): 735-7, 2008 Jun.

Article in En | MEDLINE | ID: mdl-18487559

Subject(s)

Caveolin 3/genetics; Chromosome Aberrations; Chromosome Deletion; DNA Mutational Analysis; Genes, Recessive/genetics; Muscle Cramp/genetics; Muscle Weakness/genetics; Muscular Diseases/genetics; Adult; Biopsy; Creatine Kinase/blood; Electromyography; Exons/genetics; Female; Genetic Carrier Screening; Genotype; Humans; Muscle Contraction/genetics; Muscle Cramp/diagnosis; Muscle Weakness/diagnosis; Muscle, Skeletal/pathology; Muscular Diseases/diagnosis; Neurologic Examination; Pedigree; Polymerase Chain Reaction; Polymorphism, Single Nucleotide/genetics; Receptors, Oxytocin/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA Mutational Analysis / Chromosome Aberrations / Chromosome Deletion / Muscle Weakness / Caveolin 3 / Genes, Recessive / Muscle Cramp / Muscular Diseases Type of study: Diagnostic_studies / Etiology_studies Limits: Adult / Female / Humans Language: En Journal: J Neurol Neurosurg Psychiatry Year: 2008 Document type: Article Country of publication: United kingdom

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