title: A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21.
abstract: Charcot-Marie-Tooth disease (CMT) constitutes a genetically heterogeneous group of inherited motor and sensory peripheral neuropathies. The axonal type of CMT is designated CMT type 2 (CMT2). Four loci for autosomal dominant CMT2 have been reported so far. Only in CMT2E, linked to chromosome 8p21, disease-causing mutations in the gene for neurofilament light chain (NEFL) were identified. In this study we report a multigenerational Russian family with autosomal dominant CMT2 and assign the locus to chromosome 7q11-q21. The CMT2 neuropathy in this family represents a novel genetic entity designated CMT2F.
authors.affiliation: Russian State Medical University, Moscow, Russia.
authors.forename: S M
authors.initials: SM
authors.lastname: Ismailov
authors.forename: V P
authors.initials: VP
authors.lastname: Fedotov
authors.forename: E L
authors.initials: EL
authors.lastname: Dadali
authors.forename: A V
authors.initials: AV
authors.lastname: Polyakov
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: V I
authors.initials: VI
authors.lastname: Ivanov
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
authors.forename: O V
authors.initials: OV
authors.lastname: Evgrafov
mesh_terms: D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree
chemical_list: D005819:Genetic Markers