Literature DB >> 7130990

Linkage of autosomal dominant type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1.

R J Guiloff, P K Thomas, M Contreras, S Armitage, G Schwarz, E M Sedgwick.   

Abstract

Data from English families confirms the probable linkage of the loci for autosomal dominant type I hereditary motor and sensory neuropathy (HMSN) and the Duffy blood group. The locus for autosomal dominant type I HMSN is in chromosome 1 near the centromere, about 15 centimorgans from the Duffy locus. The linkage between type I HMSN and the Duffy locus and the two recombinants found between Duffy and type II HMSN support the hypothesis that there are at least two genetic variants of autosomal dominant HMSN.

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Year:  1982        PMID： 7130990      PMCID： PMC1083154          DOI： 10.1136/jnnp.45.8.669

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  16 in total

1.  Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography.

Authors:  F Buchthal; F Behse
Journal:  Brain       Date:  1977-03       Impact factor: 13.501

2.  Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.

Authors:  P J Dyck; E H Lambert
Journal:  Arch Neurol       Date:  1968-06

3.  Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy).

Authors:  P K Thomas; D B Calne; G Stewart
Journal:  Ann Hum Genet       Date:  1974-10       Impact factor: 1.670

4.  Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity.

Authors:  P K Thomas; D B Calne
Journal:  J Neurol Neurosurg Psychiatry       Date:  1974-01       Impact factor: 10.154

5.  Probable assignment of the Duffy blood group locus to chromosome 1 in man.

Authors:  R P Donahue; W B Bias; J H Renwick; V A McKusick
Journal:  Proc Natl Acad Sci U S A       Date:  1968-11       Impact factor: 11.205

6.  Genetic aspects of hereditary motor and sensory neuropathy (types I and II).

Authors:  A E Harding; P K Thomas
Journal:  J Med Genet       Date:  1980-10       Impact factor: 6.318

7.  Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves.

Authors:  F Behse; F Buchthal
Journal:  Brain       Date:  1977-03       Impact factor: 13.501

8.  Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature.

Authors:  A E Harding; P K Thomas
Journal:  J Neurol Sci       Date:  1980-03       Impact factor: 3.181

9.  Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations.

Authors:  P J Dyck; E H Lambert
Journal:  Arch Neurol       Date:  1968-06

10.  The clinical features of hereditary motor and sensory neuropathy types I and II.

Authors:  A E Harding; P K Thomas
Journal:  Brain       Date:  1980-06       Impact factor: 13.501
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  11 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.  Hereditary motor and sensory neuropathies.

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

3.  Genetic linkage studies in hereditary motor and sensory neuropathies.

Authors:  F Leblhuber; F Reisecker; W R Mayr
Journal:  J Neurol       Date:  1986-10       Impact factor: 4.849

4.  Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

Authors:  P I Patel; B Franco; C Garcia; S A Slaugenhaupt; Y Nakamura; D H Ledbetter; A Chakravarti; J R Lupski
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

5.  Familial Scheuermann disease: a genetic and linkage study.

Authors:  L McKenzie; D Sillence
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

6.  Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature.

Authors:  F Gemignani; D Guidetti; P Bizzi; P Preda; G Cenacchi; A Marbini
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088

7.  Molecular characterization of a patient with del(1)(q23-q25).

Authors:  B Franco; L W Lai; D Patterson; D H Ledbetter; B J Trask; G van den Engh; S Iannaccone; S Frances; P I Patel; J R Lupski
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

8.  A linkage map of mouse chromosome 1 using an interspecific cross segregating for the gld autoimmunity mutation.

Authors:  M L Watson; P D'Eustachio; B A Mock; A D Steinberg; H C Morse; R J Oakey; T A Howard; J M Rochelle; M F Seldin
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

9.  Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.

Authors:  H R Middleton-Price; A E Harding; C Monteiro; J Berciano; S Malcolm
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025

10.  Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

Authors:  A Brice; N Ravisé; G Stevanin; M Gugenheim; P Bouche; C Penet; Y Agid
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318
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