title: Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
abstract: A gene mutated in Charcot-Marie-Tooth disease type 4B (CMT4B), an autosomal recessive demyelinating neuropathy with myelin outfoldings, has been mapped on chromosome 11q22. Using a positional-cloning strategy, we identified in unrelated CMT4B patients mutations occurring in the gene MTMR2, encoding myotubularin-related protein-2, a dual specificity phosphatase (DSP).
authors.affiliation: Wellcome Trust Centre for Human Genetics, Oxford, UK.
authors.forename: A
authors.initials: A
authors.lastname: Bolino
authors.forename: M
authors.initials: M
authors.lastname: Muglia
authors.forename: F L
authors.initials: FL
authors.lastname: Conforti
authors.forename: E
authors.initials: E
authors.lastname: LeGuern
authors.forename: M A
authors.initials: MA
authors.lastname: Salih
authors.forename: D M
authors.initials: DM
authors.lastname: Georgiou
authors.forename: K
authors.initials: K
authors.lastname: Christodoulou
authors.forename: I
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
authors.forename: P
authors.initials: P
authors.lastname: Mandich
authors.forename: A
authors.initials: A
authors.lastname: Schenone
authors.forename: A
authors.initials: A
authors.lastname: Gambardella
authors.forename: F
authors.initials: F
authors.lastname: Bono
authors.forename: A
authors.initials: A
authors.lastname: Quattrone
authors.forename: M
authors.initials: M
authors.lastname: Devoto
authors.forename: A P
authors.initials: AP
authors.lastname: Monaco
mesh_terms: D017398:Alternative Splicing; D002607:Charcot-Marie-Tooth Disease / Q000201:enzymology / Q000209:etiology* / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000302:isolation & purification; D006801:Humans; D009154:Mutation / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D018076:DNA, Complementary; C408986:MTMR2 protein, human; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin