Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.
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The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth diseaseMutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucomaMapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4HIdentification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis.A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.Autosomal-recessive Charcot-Marie-Tooth diseases.Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.Diagnosis of Charcot-Marie-Tooth disease.Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1.Genetics and genomic medicine in Tunisia.Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian familiesAn In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination
P2860
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P2860
Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Identification of a new locus ...... ed myelin on chromosome 11p15.
@ast
Identification of a new locus ...... ed myelin on chromosome 11p15.
@en
type
label
Identification of a new locus ...... ed myelin on chromosome 11p15.
@ast
Identification of a new locus ...... ed myelin on chromosome 11p15.
@en
prefLabel
Identification of a new locus ...... ed myelin on chromosome 11p15.
@ast
Identification of a new locus ...... ed myelin on chromosome 11p15.
@en
P2093
P356
P1433
P1476
Identification of a new locus ...... ed myelin on chromosome 11p15.
@en
P2093
Hasegawa O
Othmane KB
Pericak-Vance M
P304
P356
10.1006/GENO.1999.6028
P577
1999-12-01T00:00:00Z