title: Autosomal recessive tubular aggregate myopathy in an Indian family.
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.
authors.affiliation: Department of Neurology, KS Hegde Medical Academy, Deralakatte, Mangalore, Karnataka, India. panditmng@gmail.com
authors.forename: Lekha
authors.initials: L
authors.lastname: Pandit
authors.forename: Gayathri
authors.initials: G
authors.lastname: Narayanappa
authors.forename: Irruvathur Gopalakrishna
authors.initials: IG
authors.lastname: Bhat
authors.forename: Vinnie
authors.initials: V
authors.lastname: Thomas
mesh_terms: 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