Minimal expansion of the GCG repeat in the PABP2 gene does not predispose to sporadic inclusion body myositis
| Autor: | Bernard Brais, M.M. Mezei, C. Marineau, Ami Mankodi, Charles A. Thornton, George Karpati, Guy A. Rouleau |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
musculoskeletal diseases
Pathology medicine.medical_specialty Weakness DNA Mutational Analysis Biology Poly(A)-Binding Protein II Polymerase Chain Reaction Muscular Dystrophies Myositis Inclusion Body Oculopharyngeal muscular dystrophy Pharyngeal muscles medicine Humans Progressive proximal muscle weakness Myositis Rimmed vacuoles Middle Aged medicine.disease DNA-Binding Proteins Oculomotor Muscle medicine.anatomical_structure Oculomotor Muscles Tandem Repeat Sequences Pharyngeal Muscles Neurology (clinical) medicine.symptom |
| Zdroj: | Neurology. 52:669-669 |
| ISSN: | 1526-632X 0028-3878 |
| Popis: | Sporadic inclusion body myositis (IBM) is one of the most common acquired muscle diseases of adults. Usually, IBM presents in patients over 50 years of age with slowly progressive proximal muscle weakness, distal muscle weakness, or both, with characteristic early involvement of the long finger flexor muscles.1 Pathologically, IBM muscle shows rimmed vacuoles and characteristic nuclear or cytoplasmic 15- to 18-nm–diameter tubulofilamentous inclusions. We have observed that some oculopharyngeal muscular dystrophy (OPMD) patients, after a long duration of disease (15 to 20 years), manifest limb weakness similar to that seen in IBM. In such cases, muscle biopsies also show rimmed vacuoles and inclusions that consist not only of the specific 8.5-nm–diameter intranuclear filaments of Tome, but also the IBM type 15- to 18-nm tubulofilaments.2 These common features in OPMD and sporadic IBM raised the possibility that they share certain etiologic factors, even though the entities show substantially different characteristics. The mutations responsible for OPMD have recently been identified as a short GCG expansion in the poly (A) binding protein 2 gene ( PABP2 ) on chromosome 14.3 In … |
| Databáze: | OpenAIRE |
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