title: Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.
abstract: We report a limb-girdle muscular dystrophy 2I family with three affected sisters and a highly variable clinical course. FKRP gene sequencing showed that all three sisters carried a nonsense paternal mutation (W225X). The two oldest sisters with a severe phenotype carried two maternal mutations V79M and P89A. However, the youngest sister with a milder course carried the paternal and only the V79M maternal mutation, due to an intragenic recombination.
authors.affiliation: Human Genome Research Center, Biosciences Institute, University of São Paulo, Brazil.
authors.forename: N M
authors.initials: NM
authors.lastname: Vieira
authors.forename: D
authors.initials: D
authors.lastname: Schlesinger
authors.forename: F
authors.initials: F
authors.lastname: de Paula
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.forename: M
authors.initials: M
authors.lastname: Zatz
mesh_terms: D000293:Adolescent; D000328:Adult; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010430:Pentosyltransferases; D010641:Phenotype; D011506:Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D005819:Genetic Markers; D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases