Dysferlinopathy: Spectrum of pathological changes in skeletal muscle tissue.
Indian J Pathol Microbiol
;
2011 Apr-Jun 54(2): 350-354
Article
Dans Anglais
| IMSEAR
| ID: sea-141998
ABSTRACT
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 andMethods:
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%).
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Vacuoles
/
Femelle
/
Humains
/
Mâle
/
Immunohistochimie
/
Adolescent
/
Muscles squelettiques
/
Fibres musculaires à contraction lente
/
Adulte
/
Cellules musculaires
Type d'étude:
Étude pronostique
langue:
Anglais
Texte intégral:
Indian J Pathol Microbiol
Année:
2011
Type:
Article
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