title: Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia.
authors.forename: M
authors.initials: M
authors.lastname: Fleury
authors.forename: R
authors.initials: R
authors.lastname: Barbier
authors.forename: F
authors.initials: F
authors.lastname: Ziegler
authors.forename: M
authors.initials: M
authors.lastname: Mohr
authors.forename: O
authors.initials: O
authors.lastname: Caron
authors.forename: H
authors.initials: H
authors.lastname: Dollfus
authors.forename: C
authors.initials: C
authors.lastname: Tranchant
authors.forename: J M
authors.initials: JM
authors.lastname: Warter
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D001120:Arginine; D018753:Diet, Protein-Restricted; D015799:Gyrate Atrophy / Q000209:etiology*; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000209:etiology*; D009952:Ornithine / Q000378:metabolism*; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency; D011736:Pyridoxine / Q000627:therapeutic use; D014803:Vitamin B Complex / Q000627:therapeutic use
chemical_list: D014803:Vitamin B Complex; D001120:Arginine; D009952:Ornithine; D009953:Ornithine-Oxo-Acid Transaminase; D011736:Pyridoxine