Literature DB >> 7231442

Dominantly inherited peroneal muscular atrophy (hereditary motor and sensory neuropathy type I) in infancy and childhood.

M Vanasse, V Dubowitz.   

Abstract

A detailed clinical and electrodiagnostic study has been undertaken of demyelinating polyneuropathy in 14 children (9 male, 5 female) from 11 sibships and their parents. The onset of symptoms was before the age of 2 years in 12 of the 14 children, and the condition in all cases was nonprogressive or very slowly progressive. In each case one of the parents had a slow motor nerve conduction velocity. Five of the 11 affected parents were completely asymptomatic. Electrodiagnostic studies in both parents of all children with demyelinating peripheral neuropathy are thus important to identify the dominantly inherited form of the disease.

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Year:  1981        PMID: 7231442     DOI: 10.1002/mus.880040106

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN: 0148-639X            Impact factor:   3.217


  10 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.  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

3.  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

4.  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

5.  Congenital neuropathy with prevailing axonal changes. A clinical and histological report.

Authors:  F Guzzetta; G Ferrière
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

6.  Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

Authors:  T D Bird; J Ott; E R Giblett
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

7.  Homozygous hypertrophic hereditary motor and sensory neuropathies.

Authors:  A Sghirlanzoni; D Pareyson; R Marazzi; G Cavaletti; E Bellone; P Mandich; M R Balestrini; D Riva
Journal:  Ital J Neurol Sci       Date:  1994-02

8.  Detection of hereditary motor sensory neuropathy type I in childhood.

Authors:  T E Feasby; A F Hahn; C F Bolton; W F Brown; W J Koopman
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-10       Impact factor: 10.154

9.  The value of family investigations in newly detected Charcot-Marie-Tooth disease in children.

Authors:  J Lütschg; H J Müller; N J Malik
Journal:  Eur J Pediatr       Date:  1995       Impact factor: 3.183

10.  Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.

Authors:  Y Su; D G Brooks; L Li; J Lepercq; J A Trofatter; J V Ravetch; R V Lebo
Journal:  Proc Natl Acad Sci U S A       Date:  1993-11-15       Impact factor: 11.205

  10 in total

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