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American journal of medical genetics, 2001-04, Vol.99 (4), p.303-307 2001
Details Autor(en) / Beteiligte Titel Mutations in the caveolin-3 gene: When are they pathogenic? Ist Teil von American journal of medical genetics, 2001-04, Vol.99 (4), p.303-307 Ort / Verlag New York: John Wiley & Sons, Inc Erscheinungsjahr 2001 Quelle MEDLINE Beschreibungen/Notizen Limb‐girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic disorders usually with autosomal recessive (AR) inheritance and, less often, displaying autosomal dominant (AD) inheritance. Mutations in the caveolin‐3 gene (CAV‐3) associated with a reduction of protein expression cause AD‐LGMD1C muscular dystrophy. Based on a previous study in the American and Brazilian population, it has been suggested that CAV‐3 mutations might also cause AR‐LGMD. Here we report the analysis of the CAV‐3 gene in 61 additional Brazilian LGMD patients and 100 additional Brazilian normal controls. Two rare G55S and C71W missense changes previously detected only in LGMD patients (and not detected in 100 normal controls from the American population) were now found in normal Brazilian controls. In addition, we have identified a novel R125H missense change in one LGMD female patient that was also found in two of her unaffected siblings. These observations, together with the normal immunofluorescence caveolin pattern in the muscle biopsy from two patients with the G55W and R125H changes in the CAV‐3 gene suggest that the G55S, C71W, and R125H polymorphisms, on their own, are not sufficient to produce the pathology. © 2001 Wiley‐Liss, Inc. Sprache Englisch Identifikatoren ISSN: 0148-7299
eISSN: 1096-8628
DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1168>3.0.CO;2-O
Titel-ID: cdi_proquest_miscellaneous_76970810
Format – Schlagworte Adult , Biological and medical sciences , Brazil - epidemiology , Case-Control Studies , Caveolin 3 , caveolin-3 mutations , Caveolins - genetics , Diseases of striated muscles. Neuromuscular diseases , DNA Mutational Analysis , Female , Gene Frequency , Humans , Immunohistochemistry , limb-girdle muscular dystrophy , Male , Medical sciences , Muscle Proteins - genetics , Muscles - chemistry , Muscles - pathology , Muscular Dystrophies - etiology , Muscular Dystrophies - genetics , Muscular Dystrophies - pathology , Mutation, Missense , Neurology , Point Mutation , Polymorphism, Genetic , Prenatal Diagnosis , Tropical medicine Weiterführende Literatur Empfehlungen zum selben Thema automatisch vorgeschlagen von bX