A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.
Goizet
C
C
Yaou
R Ben
RB
Demay
L
L
Richard
P
P
Bouillot
S
S
Rouanet
M
M
Hermosilla
E
E
Le Masson
G
G
Lagueny
A
A
Bonne
G
G
Ferrer
X
X
D000328:Adult; D000595:Amino Acid Sequence; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006331:Heart Diseases / Q000150:complications / Q000235:genetics*; D006801:Humans; D034904:Lamin Type A / Q000737:chemistry / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D009264:Nails, Malformed; D010375:Pedigree
D034904:Lamin Type A; C440308:lamin C