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

Immunohistochemistry analysis of the muscle specimens from the patients is essential to define the degree of the protein defect, and may direct the genetic study. [...]new diagnostic tools such as SNP genotyping, multiple ligation probe amplification or other systems to determine copy number variati...

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Veröffentlicht in:	Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 2008-06, Vol.79 (6), p.735-737
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biopsy Caveolin 3 - genetics Chromosome Aberrations Chromosome Deletion Creatine Kinase - blood Deoxyribonucleic acid DNA DNA Mutational Analysis Electromyography Exons - genetics Female Genes Genes, Recessive - genetics Genetic Carrier Screening Genotype Humans Kinases Muscle Contraction - genetics Muscle Cramp - diagnosis Muscle Cramp - genetics Muscle Weakness - diagnosis Muscle Weakness - genetics Muscle, Skeletal - pathology Muscular Diseases - diagnosis Muscular Diseases - genetics Mutation Neurologic Examination Patients Pedigree Polymerase Chain Reaction Polymorphism, Single Nucleotide - genetics Proteins Receptors, Oxytocin - genetics
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Zusammenfassung:	Immunohistochemistry analysis of the muscle specimens from the patients is essential to define the degree of the protein defect, and may direct the genetic study. [...]new diagnostic tools such as SNP genotyping, multiple ligation probe amplification or other systems to determine copy number variation, and analysis of putative genome regulatory elements, might be required. [...]caveolinopathies can be transmitted as autosomal-dominant or autosomal-recessive traits.
ISSN:	0022-3050 1468-330X
DOI:	10.1136/jnnp.2007.133207