[HTML][HTML] Dysferlinopathy: spectrum of pathological changes in skeletal muscle tissue

N Gayathri, R Alefia, A Nalini, TC Yasha… - Indian Journal of …, 2011 - journals.lww.com
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 …