Literature DB >> 7203475

Sex-linked recessive inheritance in Charcot-Marie-tooth disease with partial clinical manifestations in female carriers.

J P Fryns, H Van den Berghe.   

Abstract

A large kindred with sex-linked recessive inheritance of Charcot-Marie-Tooth disease is presented. Partial clinical manifestations without functional disability and decreased nerve conduction velocity was demonstrated in the female heterozygotes.

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Year:  1980        PMID： 7203475     DOI： 10.1007/bf00290228

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  3 in total

1.  [Relationships between genotype and phenotype in Charcot-Marie-Tooth disease].

Authors:  E Câmpeanu; M Morariu
Journal:  Rev Roum Neurol       Date:  1970

2.  Charcot-Marie-Tooth disease with sex-linked inheritance, linkage studies and abnormal serum alkaline phosphatase levels.

Authors:  C J de Weerdt
Journal:  Eur Neurol       Date:  1978       Impact factor: 1.710

3.  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
  3 in total
  8 in total

1.  Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.

Authors:  C K Abrams; M M Freidin; V K Verselis; M V Bennett; T A Bargiello
Journal:  Brain Res       Date:  2001-05-04       Impact factor: 3.252

Review 2.  Molecular genetics of X-linked Charcot-Marie-Tooth disease.

Authors:  Kleopas A Kleopa; Steven S Scherer
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

3.  Charcot-Marie-Tooth disease.

Authors:  J J Heimans; D Lindhout
Journal:  J Med Genet       Date:  1983-02       Impact factor: 6.318

4.  Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.

Authors:  V V Ionasescu; J Trofatter; J L Haines; A M Summers; R Ionasescu; C Searby
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

5.  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

6.  Altered trafficking of mutant connexin32.

Authors:  S M Deschênes; J L Walcott; T L Wexler; S S Scherer; K H Fischbeck
Journal:  J Neurosci       Date:  1997-12-01       Impact factor: 6.167

7.  Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.

Authors:  F P Thomas; R V Lebo; G Rosoklija; X S Ding; R E Lovelace; N Latov; A P Hays
Journal:  Acta Neuropathol       Date:  1994       Impact factor: 17.088

Review 8.  Connexinopathies: a structural and functional glimpse.

Authors:  Isaac E García; Pavel Prado; Amaury Pupo; Oscar Jara; Diana Rojas-Gómez; Paula Mujica; Carolina Flores-Muñoz; Jorge González-Casanova; Carolina Soto-Riveros; Bernardo I Pinto; Mauricio A Retamal; Carlos González; Agustín D Martínez
Journal:  BMC Cell Biol       Date:  2016-05-24       Impact factor: 4.241
  8 in total

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