FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
Walter
M C
MC
Gene Center, Friedrich-Baur-Institute, and Department of Neurology, Ludwig-Maximilians-University of Munich, Germany.
Petersen
J A
JA
Stucka
R
R
Fischer
D
D
Schröder
R
R
Vorgerd
M
M
Schroers
A
A
Schreiber
H
H
Hanemann
C O
CO
Knirsch
U
U
Rosenbohm
A
A
Huebner
A
A
Barisic
N
N
Horvath
R
R
Komoly
S
S
Reilich
P
P
Müller-Felber
W
W
Pongratz
D
D
Müller
J S
JS
Auerswald
E A
EA
Lochmüller
H
H
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
D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases