Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.
An Italian multigenerational family with four members affected by an axonal Charcot-Marie-Tooth type 2D (CMT-2D) or distal spinal muscular atrophy (dSMA) phenotype with upper limb predominance, variable age at onset, degree of disability, and autosomal dominant inheritance is reported. A novel heterozygous missense GARS gene mutation (D500N) was identified.
Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena Foundation, Milan, Italy. roberto.delbo@unimi.it
R
R
Del Bo
F
F
Locatelli
S
S
Corti
M
M
Scarlato
S
S
Ghezzi
A
A
Prelle
G
G
Fagiolari
M
M
Moggio
M
M
Carpo
N
N
Bresolin
G P
GP
Comi
D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005260:Female; D006032:Glycine-tRNA Ligase / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
D006032:Glycine-tRNA Ligase