Open AccessDysferlinopathy: Spectrum of pathological changes in skeletal muscle tissue
Author(s) -
Narayanappa Gayathri,
R Alefia,
Priya Treesa Thomas,
T C Yasha,
M. Anita,
Vani Santosh,
S K Shankar
Publication year - 2011
Publication title -
indian journal of pathology and microbiology/indian journal of pathology and microbiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.217
H-Index - 31
eISSN - 0974-5130
pISSN - 0377-4929
DOI - 10.4103/0377-4929.81636
Subject(s) - dysferlin , phenotype , pathology , limb girdle muscular dystrophy , pathological , atrophy , myopathy , clinical phenotype , medicine , anatomy , biology , skeletal muscle , genetics , gene
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.