title: Congenital myopathy with tubular aggregates: report on two siblings from India.
abstract: The clinical features and morphological findings in 2 Indian siblings with tubular aggregates are described. The siblings aged 14 and 9 years, respectively, born of consanguineous marriage presented with early onset gradually progressive lower limb proximal muscle weakness associated with seizures and mental subnormality. Muscle biopsy in both revealed characteristic tubular aggregates in type II fibers, which were confirmed electron microscopically. To the best of our knowledge, association of seizures and mental subnormality in familial tubular aggregates has not been described. Muscle biopsy helped in establishing the diagnosis of this rare familial disorder.
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India. gayathri@nimhans.kar.inc.in
authors.forename: Gayathri
authors.initials: G
authors.lastname: Narayanappa
authors.forename: Atchayaram
authors.initials: A
authors.lastname: Nalini
authors.forename: Fazil
authors.initials: F
authors.lastname: Thaha
mesh_terms: D000293:Adolescent; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007194:India; D007866:Leg; D008297:Male; D008854:Microscopy, Electron; D018656:Muscle Fibers, Fast-Twitch / Q000473:pathology* / Q000648:ultrastructure; D018908:Muscle Weakness / Q000473:pathology; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis / Q000473:pathology; D010375:Pedigree; D035781:Siblings