@article{356a3a7e01164f8db0d706562e38ec2e,
title = "LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype",
abstract = "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.",
keywords = "Adolescent, Adult, Codon, Terminator/genetics, Creatine Kinase/blood, DNA Mutational Analysis, Diagnosis, Differential, Exons/genetics, Frameshift Mutation/genetics, Genetic Carrier Screening, Genetic Counseling/standards, Genetic Predisposition to Disease/genetics, Genetic Testing, Heterozygote, Humans, Male, Muscular Atrophy/genetics, Muscular Dystrophies, Limb-Girdle/diagnosis, Muscular Dystrophy, Duchenne/diagnosis, Mutation/genetics, Mutation, Missense/genetics, Pentosyltransferases, Phenotype, Proteins/genetics",
author = "Marianne Schwartz and Hertz, {Jens Michael} and Sveen, {Marie Louise} and John Vissing",
year = "2005",
month = may,
day = "10",
doi = "10.1212/01.WNL.0000157654.59374.E5",
language = "English",
volume = "64",
pages = "1635--7",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "9",
}