title: Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
abstract: We describe 22 patients with mutations in the fukutin-related protein (FKPR) gene. Four patients had congenital muscular dystrophy (MDC1C), with presentation at birth, severe weakness and inability to stand unsupported. The other 18 had limb girdle muscular dystrophy (LGMD2I). Eleven showed a Duchenne-like course with loss of ambulation in the early teens while 7 had a milder phenotype. Muscle biopsy invariably showed abnormal expression of a-dystroglycan. MDC1C patients either carried 2 missense or 1 missense and 1 nonsense mutations. Patients with LGMD2I shared a common mutation (C826A,Leu276Ileu) and their phenotypic severity was correlated with the second allelic mutation.
authors.affiliation: Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom. e.mercuri@ic.ac.uk
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.forename: Martin
authors.initials: M
authors.lastname: Brockington
authors.forename: Volker
authors.initials: V
authors.lastname: Straub
authors.forename: Susana
authors.initials: S
authors.lastname: Quijano-Roy
authors.forename: Yeliz
authors.initials: Y
authors.lastname: Yuva
authors.forename: Ralf
authors.initials: R
authors.lastname: Herrmann
authors.forename: Susan C
authors.initials: SC
authors.lastname: Brown
authors.forename: Silvia
authors.initials: S
authors.lastname: Torelli
authors.forename: Victor
authors.initials: V
authors.lastname: Dubowitz
authors.forename: Derek J
authors.initials: DJ
authors.lastname: Blake
authors.forename: Norma B
authors.initials: NB
authors.lastname: Romero
authors.forename: Brigitte
authors.initials: B
authors.lastname: Estournet
authors.forename: Caroline A
authors.initials: CA
authors.lastname: Sewry
authors.forename: Pascale
authors.initials: P
authors.lastname: Guicheney
authors.forename: Thomas
authors.initials: T
authors.lastname: Voit
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001706:Biopsy; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics; D049030:Dystroglycans; D005260:Female; D006801:Humans; D007040:Hypoventilation / Q000235:genetics; D008562:Membrane Glycoproteins / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology*; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics / Q000473:pathology; D020125:Mutation, Missense; D010430:Pentosyltransferases; D017933:Peripheral Nervous System / Q000473:pathology; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D012720:Severity of Illness Index; D018487:Ventricular Dysfunction, Left / Q000235:genetics
chemical_list: D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D008562:Membrane Glycoproteins; D011506:Proteins; D049030:Dystroglycans; C443107:FKRP protein, human; D010430:Pentosyltransferases