Literature DB >> 2707366

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17.

J M Vance1, G A Nicholson, L H Yamaoka, J Stajich, C S Stewart, M C Speer, W Y Hung, A D Roses, D Barker, M A Pericak-Vance.   

Abstract

Charcot-Marie-Tooth disease Type 1 (CMT) is an inherited neuropathy with known genetic heterogeneity, with at least one autosomal dominant form (CMT Type 1b) linked to the Duffy region of chromosome 1. Autosomal dominant families not demonstrating linkage to the Duffy blood group marker have been designated CMT Type 1a. We report linkage of six CMT Type 1a families to the chromosome 17 markers EW301 (D17S58) and pA10-41 (D17S71) with maximum LOD scores of zeta = 10.49 at theta (maximum recombination fraction) = 0.05 and zeta = 7.36 at theta = 0.06, respectively.

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Year:  1989        PMID: 2707366     DOI: 10.1016/s0014-4886(89)80013-5

Source DB:  PubMed          Journal:  Exp Neurol        ISSN: 0014-4886            Impact factor:   5.330


  40 in total

1.  Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

Authors:  P F Chance; T D Bird; P O'Connell; H Lipe; J M Lalouel; M Leppert
Journal:  Am J Hum Genet       Date:  1990-12       Impact factor: 11.025

Review 2.  Charcot-Marie-Tooth disease type 1.

Authors:  S Malcolm
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

3.  Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region.

Authors:  R V Lebo; P F Chance; P J Dyck; M T Redila-Flores; E D Lynch; M S Golbus; T D Bird; M C King; L A Anderson; J Hall
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

4.  Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B.

Authors:  J M Vance; M C Speer; J M Stajich; S West; C Wolpert; P Gaskell; F Lennon; R M Tim; M Rozear; K B Othmane
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

Review 5.  American Society of Human Genetics presidential address, October 18, 1990.

Authors:  C T Caskey
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

Review 6.  Hereditary motor and sensory neuropathies.

Authors:  J M Vance
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318

7.  The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2.

Authors:  J E Hoogendijk; G W Hensels; I Zorn; L Valentijn; E A Janssen; M de Visser; D F Barker; B W Ongerboer de Visser; F Baas; P A Bolhuis
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

Review 8.  [Genetics of neuropathies].

Authors:  B Gess; A Schirmacher; P Young
Journal:  Nervenarzt       Date:  2013-02       Impact factor: 1.214

9.  Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Authors:  C A Wise; C A Garcia; S N Davis; Z Heju; L Pentao; P I Patel; J R Lupski
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

10.  Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy.

Authors:  P R Fain; D F Barker; P F Chance
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

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