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Published on: August 15, 2019
Autosomal recessive tubular aggregate myopathy in an Indian family
Lekha Pandit1, Gayathri Narayanappa, Irruvathur Gopalakrishna Bhat
1Department of Neurology, KS Hegde Medical Academy, Deralakatte, Mangalore, Karnataka, India. panditmng@gmail.com
Abstract:
Tubular aggregate myopathy has been reported in 25 patients worldwide, predominantly in Caucasians and mostly of autosomal dominant inheritance. We are reporting three affected members of an Indian family with autosomal recessive form of the disease, who in addition had varied clinical presentations of the same disease process.
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