Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family.
Casali
C
C
Neurological Institute, La Sapienza University, Rome, Italy.
Fabrizi
G M
GM
Santorelli
F M
FM
Colazza
G
G
Villanova
M
M
Dotti
M T
MT
Cavallaro
T
T
Cardaioli
E
E
Battisti
C
C
Manneschi
L
L
DiGennaro
G C
GC
Fortini
D
D
Spadaro
M
M
Morocutti
C
C
Federico
A
A
D000328:Adult; D002524:Cerebellar Ataxia / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D008067:Lipoma / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012878:Skin Neoplasms / Q000235:genetics*
D004272:DNA, Mitochondrial