Autosomal recessive tubular aggregate myopathy in an Indian family.
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.
Pandit
Lekha
L
Department of Neurology, KS Hegde Medical Academy, Deralakatte, Mangalore, Karnataka, India. panditmng@gmail.com
Narayanappa
Gayathri
G
Bhat
Irruvathur Gopalakrishna
IG
Thomas
Vinnie
V
D000293:Adolescent; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D006801:Humans; D007194:India / Q000208:ethnology; D008297:Male; D008854:Microscopy, Electron; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology