Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
Claramunt
R
R
Pedrola
L
L
Sevilla
T
T
López de Munain
A
A
Berciano
J
J
Cuesta
A
A
Sánchez-Navarro
B
B
Millán
J M
JM
Saifi
G M
GM
Lupski
J R
JR
Vílchez
J J
JJ
Espinós
C
C
Palau
F
F
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002869:Chromosome Aberrations; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D005820:Genetic Testing / Q000379:methods*; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D013030:Spain
C118663:GDAP protein; D009419:Nerve Tissue Proteins; D011506:Proteins