title: An irish case of limb-girdle muscular dystrophy 2I with structural eye involvement.
authors.affiliation: Department of Neurology, Mater Misericordiae University Hospital, Dublin, Ireland.
authors.forename: Siew Mei
authors.initials: SM
authors.lastname: Yap
authors.affiliation: Department of Neuropathology, Beaumont Hospital, Beaumont Road, Dublin, Ireland.
authors.forename: Michael
authors.initials: M
authors.lastname: Farrell
authors.affiliation: Department of Neuropathology, Beaumont Hospital, Beaumont Road, Dublin, Ireland.
authors.forename: Jane
authors.initials: J
authors.lastname: Cryan
authors.affiliation: Department of Neurology, Mater Misericordiae University Hospital, Dublin, Ireland.
authors.forename: Shane
authors.initials: S
authors.lastname: Smyth
mesh_terms: D000328:Adult; D002386:Cataract / Q000150:complications*; D003402:Creatine Kinase / Q000378:metabolism; D004452:Echocardiography; D004576:Electromyography; D005260:Female; D006801:Humans; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications*; D009154:Mutation / Q000235:genetics; D009431:Neural Conduction / Q000502:physiology; D010430:Pentosyltransferases; D011506:Proteins / Q000235:genetics
chemical_list: D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases; D003402:Creatine Kinase