A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B.
Todorova
A
A
Department of Human Genetics, Biozentrum, University of Wuerzburg, Germany.
Halliger-Keller
B
B
Walter
M C
MC
Dabauvalle
M-C
MC
Lochmüller
H
H
Müller
C R
CR
D000595:Amino Acid Sequence; D001483:Base Sequence; D005091:Exons; D020022:Genetic Predisposition to Disease; D006801:Humans; D034882:Lamins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010375:Pedigree; D012326:RNA Splicing; D012333:RNA, Messenger / Q000378:metabolism
D034882:Lamins; D012333:RNA, Messenger