About: Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

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About: Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	article (en) wetenschappelijk artikel (nl) наукова стаття, опублікована в серпні 1993 (uk) article scientifique publié en 1993 (fr) im August 1993 veröffentlichter wissenschaftlicher Artikel (de) 1993 ആഗസ്റ്റ് 1നു പ്രസിദ്ധീകരിച്ച ശാസ്ത്രീയ ലേഖനം (ml)
publication date	wds:Q57624243-D0C2998F-76BC-4917-BD31-944A1F61D836
publication date	1993-08-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q57624243-06882A40-F6F5-466B-BB83-CDF9A98B2358 wds:Q57624243-1190569D-C01E-4AB5-A99A-5747E9CCC223 wds:Q57624243-11A2A337-51CA-494F-81B3-B513DDCE0EB1 wds:Q57624243-1B9A9888-F6AD-4B42-BDDF-06D02E17B246 wds:Q57624243-205B585A-C12A-447E-A2A0-6F6E2AD22FEC wds:Q57624243-3A42C9E7-5DA5-4ECD-B4A0-2221B1B3B6F7 wds:Q57624243-544A4453-165B-495E-8B5D-431DFCCD0519 wds:Q57624243-995CB3F7-7F65-43EB-BA8C-490DEE5A003F wds:Q57624243-ACA2DEFC-63F7-4EA5-8A6F-3E67836388CE wds:Q57624243-DF653A26-C185-433A-840D-92430EF075D4
author name string	M A Pericak-Vance A D Roses K Ben Othmane J M Stajich F Lennon P C Gaskell K M Wilkinson L J Loprest L T Middleton M P Rozear
rdfs:label	Localization of a Gene (nl) Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity (en)
skos:prefLabel	Localization of a Gene (nl) Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity (en)
name	Localization of a Gene (nl) Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity (en)
title	wds:Q57624243-07FE9FF2-CFE6-4227-AA2C-0D41A955F424
title	Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity (en)
page(s)	wds:Q57624243-774210BE-AEA5-435D-981C-B0D3804F2BD7
page(s)	370-375
instance of	wds:Q57624243-DA2C1B50-72B0-431D-9FFB-8BE491B67513
instance of	scholarly article
main subject	wds:Q57624243-4A9761C5-781C-4330-B263-24546017C2E4 wds:Q57624243-D2F20BF7-9BD9-406A-9708-7B1745946159
main subject	heterogeneity Charcot-Marie-Tooth disease type 2
PubMed ID	wds:Q57624243-3B9FF4F2-40A2-442A-BA70-6311C819917B
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8406488
PubMed ID	8406488
published in	wds:Q57624243-D0386D25-6C05-43E7-908D-5F00FF74252A
published in	Genomics
issue	wds:Q57624243-D605D8EE-EF2A-41A0-A724-DDB091F49E2F
volume	wds:Q57624243-2BE3B4FD-4EB6-4104-B1FA-B2061D9BE93A
issue	2
volume	17
DOI	wds:Q57624243-F84F3081-EED9-437A-A258-9480D20B1F29
DOI	http://dx.doi.org/10.1006/GENO.1993.1334
DOI	10.1006/GENO.1993.1334
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57624243
is cites work of	A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models An 85-kb tandem triplication in the slow Wallerian degeneration (Wlds) mouse Human homologue of a gene mutated in the slow Wallerian degeneration (C57BL/Wld(s)) mouse Genomic instability in 1p and human malignancies Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35 A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L) Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy The genetic contribution to the phenotype Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity Autonomic and respiratory dysfunction in Charcot-Marie-Tooth disease due to Thr124Met mutation in the myelin protein zero gene Microtubule defects & Neurodegeneration Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2. Dominantly inherited peripheral neuropathies A clinical review of Charcot-Marie-Tooth Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). Analysis of genetic linkage data for Mendelian traits Hereditary neuropathies in children: the contribution of the new genetics Charcot-Marie-Tooth disease--muscle biopsy findings in relation to neurophysiology. Clinical predominance of proximal upper limb weakness in CMT1A syndrome The pathology of charcot-marie-tooth disease and related disorders Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15

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