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Indian J Pathol Microbiol ; 2011 Apr-Jun 54(2): 350-354
Article Dans Anglais | IMSEAR | ID: sea-141998

Résumé

Background: Dysferlinopathy is an autosomal recessive-limb girdle muscular dystrophy (AR-LGMD) caused due to the defect in gene encoding dysferlin, a sarcolemmal protein. Awareness of the variants and their relative frequency is essential for accurate diagnosis. Aim: To study the spectrum of morphologic changes in immunohistochemically proven cases of dysferlinopathies, to correlate the findings with clinical phenotype and durations of illness and determine the frequency. Materials and Methods: Dysferlinopathies seen over a period of 2 years at a tertiary neurological center were analyzed. Results: Clinically, majority had Miyoshi phenotype (46.6%) with distal involvement and LGMD phenotype (40%) with proximal muscle involvement. In addition, a proximo-distal and tibial muscle phenotype was encountered. Morphologically, rimmed vacuoles were noted in the Miyoshi phenotype. The presence of ragged red fibers, lobulated fibers and inflammation had no preference to a particular phenotype. Significant atrophy and lobulated fibers were noted in patients with longer duration of illness. Conclusions: Dysferlinopathy was the second most common identifiable cause (21%) of LGMD next to sarcoglycanopathies (27%).


Sujets)
Adolescent , Adulte , Femelle , Humains , Immunohistochimie , Mâle , Protéines membranaires/analyse , Microscopie , Adulte d'âge moyen , Cellules musculaires/ultrastructure , Fibres musculaires à contraction lente/ultrastructure , Protéines du muscle/analyse , Muscles squelettiques/anatomopathologie , Dystrophies musculaires des ceintures/anatomopathologie , Vacuoles/ultrastructure , Jeune adulte
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