title: FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
authors.affiliation: Gene Center, Friedrich-Baur-Institute, and Department of Neurology, Ludwig-Maximilians-University of Munich, Germany.
authors.forename: M C
authors.initials: MC
authors.lastname: Walter
authors.forename: J A
authors.initials: JA
authors.lastname: Petersen
authors.forename: R
authors.initials: R
authors.lastname: Stucka
authors.forename: D
authors.initials: D
authors.lastname: Fischer
authors.forename: R
authors.initials: R
authors.lastname: Schröder
authors.forename: M
authors.initials: M
authors.lastname: Vorgerd
authors.forename: A
authors.initials: A
authors.lastname: Schroers
authors.forename: H
authors.initials: H
authors.lastname: Schreiber
authors.forename: C O
authors.initials: CO
authors.lastname: Hanemann
authors.forename: U
authors.initials: U
authors.lastname: Knirsch
authors.forename: A
authors.initials: A
authors.lastname: Rosenbohm
authors.forename: A
authors.initials: A
authors.lastname: Huebner
authors.forename: N
authors.initials: N
authors.lastname: Barisic
authors.forename: R
authors.initials: R
authors.lastname: Horvath
authors.forename: S
authors.initials: S
authors.lastname: Komoly
authors.forename: P
authors.initials: P
authors.lastname: Reilich
authors.forename: W
authors.initials: W
authors.lastname: Müller-Felber
authors.forename: D
authors.initials: D
authors.lastname: Pongratz
authors.forename: J S
authors.initials: JS
authors.lastname: Müller
authors.forename: E A
authors.initials: EA
authors.lastname: Auerswald
authors.forename: H
authors.initials: H
authors.lastname: Lochmüller
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D002648:Child; D005260:Female; D005787:Gene Frequency; D005858:Germany; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D020125:Mutation, Missense; D010430:Pentosyltransferases; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D016415:Sequence Alignment
chemical_list: D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases