Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11.
De Sandre-Giovannoli
A
A
Delague
V
V
Hamadouche
T
T
Chaouch
M
M
Krahn
M
M
Boccaccio
I
I
Maisonobe
T
T
Chouery
E
E
Jabbour
R
R
Atweh
S
S
Grid
D
D
Mégarbané
A
A
Lévy
N
N
D000328:Adult; D000462:Algeria / Q000208:ethnology; D002607:Charcot-Marie-Tooth Disease / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003711:Demyelinating Diseases / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D005820:Genetic Testing; D006720:Homozygote; D006801:Humans; D007861:Lebanon / Q000208:ethnology; D008297:Male; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology