Autosomal recessive tubular aggregate myopathy in an Indian family.
作者信息
Pandit Lekha, Narayanappa Gayathri, Bhat Irruvathur Gopalakrishna, Thomas Vinnie
机构信息
Department of Neurology, KS Hegde Medical Academy, Deralakatte, Mangalore, Karnataka, India.
出版信息
Eur J Paediatr Neurol. 2009 Jul;13(4):373-5. doi: 10.1016/j.ejpn.2008.06.008. Epub 2008 Aug 6.
PMID:18684652
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.
摘要
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