Literature DB >> 2392234

Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17.

J C Defesche1, J E Hoogendijk, M de Visser, O de Visser, P A Bolhuis.   

Abstract

Hereditary motor and sensory neuropathy type 1 (HMSN I) is an autosomal dominant disorder genetically localized on chromosome 1 in a few families and on chromosome 17 in other families. We analyzed linkage between 6 markers of chromosome 1, 2 markers of chromosome 17, and the HMSN I locus using restriction fragment length polymorphisms and serotyping for the Duffy blood group in 5 families with HMSN I. Only in 1 of these families is linkage present between the disease locus and the loci for Duffy blood group and glucocerebrosidase (chromosome 1 markers). In the 4 other families the HMSN I locus is linked to the chromosome 17 markers pEW301 and pA10-41.

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Year:  1990        PMID: 2392234     DOI: 10.1212/wnl.40.9.1450

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  17 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

2.  Nerve root and sciatic trunk enlargement in Déjérine-Sottas disease: MRI appearances.

Authors:  N Masuda; H Hayashi; H Tanabe
Journal:  Neuroradiology       Date:  1992       Impact factor: 2.804

Review 3.  Molecular biology of neurological diseases.

Authors:  W J Cumming
Journal:  Postgrad Med J       Date:  1992-04       Impact factor: 2.401

4.  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

5.  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

6.  Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers.

Authors:  R V Lebo; E D Lynch; T D Bird; M S Golbus; D F Barker; P O'Connell; P F Chance
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

7.  Phenotypic presentation of the Ser63Del MPZ mutation.

Authors:  Lindsey J Miller; Agnes Patzko; Richard A Lewis; Michael E Shy
Journal:  J Peripher Nerv Syst       Date:  2012-06       Impact factor: 3.494

8.  MRI of enlarged dorsal ganglia, lumbar nerve roots, and cranial nerves in polyradiculoneuropathies.

Authors:  M Castillo; S K Mukherji
Journal:  Neuroradiology       Date:  1996-08       Impact factor: 2.804

9.  Alport's syndrome and hereditary motor and sensory neuropathy type I--an unfortunate coincidence.

Authors:  J E Deal; S M Hall; R A Hughes; S P Rigden
Journal:  Pediatr Nephrol       Date:  1993-04       Impact factor: 3.714

10.  Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

Authors:  P Raeymaekers; V Timmerman; E Nelis; W Van Hul; P De Jonghe; J J Martin; C Van Broeckhoven
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

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