title: Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case.
abstract: Distal myopathy with rimmed vacuoles (DMRV) is a major entity of distal myopathy. It is an autosomal recessive disorder and is due to mutations in the GNE gene that regulates the synthesis of sialic acid. Although reported predominantly from Japan, cases have been reported from other parts of the world. We report the first genetically proven case of DMRV from India in a 23-year-old male with gradual onset, progressive distal weakness of both lower limbs with features of inflammation in muscle biopsy.
authors.affiliation: Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, India. meenaak@hotmail.com
authors.forename: Meena A
authors.initials: MA
authors.lastname: Kannan
authors.forename: S
authors.initials: S
authors.lastname: Challa
authors.forename: Andoni J
authors.initials: AJ
authors.lastname: Urtizberea
authors.forename: Martin
authors.initials: M
authors.lastname: Krahn
authors.forename: A S
authors.initials: AS
authors.lastname: Jabeen
authors.forename: R
authors.initials: R
authors.lastname: Borgohain
mesh_terms: D049310:Distal Myopathies / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D007249:Inflammation / Q000150:complications / Q000235:genetics / Q000473:pathology; D008297:Male; D009097:Multienzyme Complexes / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D014617:Vacuoles / Q000235:genetics* / Q000473:pathology*; D055815:Young Adult
chemical_list: D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase