Indian Journal of Pathology and Microbiology
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Year : 2011  |  Volume : 54  |  Issue : 2  |  Page : 350-354

Dysferlinopathy: Spectrum of pathological changes in skeletal muscle tissue

1 Department of Neuropathology, National Institute of Mental Health & Neurosciences, Bangalore, Karnataka, India
2 Department of Neurology, National Institute of Mental Health & Neurosciences, Bangalore, Karnataka, India

Correspondence Address:
N Gayathri
Department of Neuropathology, National Institute of Mental Health & Neurosciences, Bangalore - 560 029, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.81636

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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%).

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