title: [Phenotypic aspects of FKRP-linked muscular dystrophy type 2I in a series of eleven patients].
abstract: BACKGROUND
  Limb-girdle muscular dystrophy type 2I (LGMD2I) is caused by mutations in the fukutin related protein gene (FKRP gene). This study tries to evaluate clinical, biological and mutational characteristics of LGMD2I.
  
  
  METHODS
  Eleven patients belonging to 9 families from the North of France were selected. We reported demographic data, and results of muscular testing, cardiac, and respiratory examination, as well as the histopathological features of muscle tissue and a genetic analysis of FKRP gene for each patient.
  
  
  RESULTS
  There were 6 females and 5 males. Mean age at onset was 9.7 years old. Six had Duchenne like phenotype, 5 Becker like phenotype. Nine patients suffered from restrictive respiratory failure, two males had severe dilated cardiomyopathy. Ten patients had the common L276I mutation. Three mutations had not been previously identified: L322V, L489R and R275G heterozygous mutations associated with the L276I mutation.
  
  
  CONCLUSIONS
  This study underlines inter and intra familial phenotypic variability in LGMD2I, preponderance of cardiomyopathy in males and restrictive respiratory insufficiency in female.
authors.affiliation: Service de Neurologie inflammatoire et infectieuse, Hôpital Roger Salengro, CHRU Lille. bourteel-h@ch-valenciennes.fr
authors.forename: H
authors.initials: H
authors.lastname: Bourteel
authors.forename: T
authors.initials: T
authors.lastname: Stojkovic
authors.forename: J M
authors.initials: JM
authors.lastname: Cuisset
authors.forename: C A
authors.initials: CA
authors.lastname: Maurage
authors.forename: P
authors.initials: P
authors.lastname: Laforet
authors.forename: P
authors.initials: P
authors.lastname: Richard
authors.forename: P
authors.initials: P
authors.lastname: Vermersch
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D002311:Cardiomyopathy, Dilated / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005602:France / Q000453:epidemiology; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D020125:Mutation, Missense; D010430:Pentosyltransferases; D010641:Phenotype; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000209:etiology; D012737:Sex Factors; D013318:Stroke Volume
chemical_list: D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases