LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.
LGMD type 2I, caused by mutations in the fukutin-related protein, is a common form of LGMD. The phenotype resembles Duchenne/Becker muscular dystrophy. A point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I.
Schwartz
Marianne
M
Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark. schwartz@rh.hosp.dk
Hertz
Jens Michael
JM
Sveen
Marie Louise
ML
Vissing
John
J
D000293:Adolescent; D000328:Adult; D018388:Codon, Terminator / Q000235:genetics; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation / Q000235:genetics; D006580:Genetic Carrier Screening; D005817:Genetic Counseling / Q000592:standards; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics*; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010430:Pentosyltransferases; D010641:Phenotype; D011506:Proteins / Q000235:genetics*
D018388:Codon, Terminator; D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases; D003402:Creatine Kinase