title: Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood.
abstract: A boy with congenital generalized lipodystrophy type 4 with muscular dystrophy presented in infancy with delay in motor milestones and a persistent elevation of CK. There was no associated mental retardation. He was followed up to 3 years and 11 months; he had a homozygous c.696_697insC mutation in polymerase I and transcript release factor (PTRF). He started to walk at 2 years and 6 months although he did not have mental retardation. Insulin resistance appeared at 3 years and 11 months of age. PTRF immunostaining positivity was absent in the muscle but caveolin-3 was preserved in the sarcolemma at 16 months of age. Secondary deficiency of caveolins may be closely associated with disease progression.
authors.affiliation: Department of Pediatrics, Dokkyo Medical University, Koshigaya Hospital, Koshigaya, Saitama, Japan. nobuyuki@dokkyomed.ac.jp
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Murakami
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Yuji
authors.initials: Y
authors.lastname: Oto
authors.forename: Masahisa
authors.initials: M
authors.lastname: Shiraishi
authors.forename: Hisashi
authors.initials: H
authors.lastname: Itabashi
authors.forename: Kyoko
authors.initials: K
authors.lastname: Kudo
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.forename: Toshiro
authors.initials: T
authors.lastname: Nagai
mesh_terms: D051244:Caveolin 3 / Q000235:genetics; D002675:Child, Preschool; D020022:Genetic Predisposition to Disease; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics*; D052497:Lipodystrophy, Congenital Generalized / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D012508:Sarcolemma / Q000235:genetics / Q000473:pathology
chemical_list: D051244:Caveolin 3