title: Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
authors.forename: R
authors.initials: R
authors.lastname: Claramunt
authors.forename: L
authors.initials: L
authors.lastname: Pedrola
authors.forename: T
authors.initials: T
authors.lastname: Sevilla
authors.forename: A
authors.initials: A
authors.lastname: López de Munain
authors.forename: J
authors.initials: J
authors.lastname: Berciano
authors.forename: A
authors.initials: A
authors.lastname: Cuesta
authors.forename: B
authors.initials: B
authors.lastname: Sánchez-Navarro
authors.forename: J M
authors.initials: JM
authors.lastname: Millán
authors.forename: G M
authors.initials: GM
authors.lastname: Saifi
authors.forename: J R
authors.initials: JR
authors.lastname: Lupski
authors.forename: J J
authors.initials: JJ
authors.lastname: Vílchez
authors.forename: C
authors.initials: C
authors.lastname: Espinós
authors.forename: F
authors.initials: F
authors.lastname: Palau
mesh_terms: 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
chemical_list: C118663:GDAP protein; D009419:Nerve Tissue Proteins; D011506:Proteins