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.
Del Bo
R
R
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
Locatelli
F
F
Corti
S
S
Scarlato
M
M
Ghezzi
S
S
Prelle
A
A
Fagiolari
G
G
Moggio
M
M
Carpo
M
M
Bresolin
N
N
Comi
G P
GP
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