Literature DB >> 1674715

X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region.

M L Mostacciuolo1, E Müller, P Fardin, G F Micaglio, B Bardoni, S Guioli, G Camerino, G A Danieli.   

Abstract

Linkage analysis was performed on 41 subjects belonging to a large family with a recurrence of X-linked Charcot-Marie-Tooth disease (CMTX), by using 12 restriction fragment length polymorphism markers mapping in p11-q13. The results are in agreement with previous linkage data. Three new markers that are potentially useful for genetic analysis of CMTX families are described. A more precise estimate of the localization of the disease locus was attempted by multipoint linkage analysis.

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Year:  1991        PMID： 1674715     DOI： 10.1007/bf01213086

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


  13 in total

1.  X-linked neuropathy: gene localization with DNA probes.

Authors:  K H Fischbeck; N ar-Rushdi; M Pericak-Vance; M Rozear; A D Roses; J P Fryns
Journal:  Ann Neurol       Date:  1986-10       Impact factor: 10.422

Review 2.  Report of the committee on the genetic constitution of the X chromosome.

Authors:  J L Mandel; H F Willard; R L Nussbaum; G Romeo; J M Puck; K E Davies
Journal:  Cytogenet Cell Genet       Date:  1989

3.  Hereditary motor and sensory neuropathy, X-linked: a half century follow-up.

Authors:  M P Rozear; M A Pericak-Vance; K Fischbeck; J M Stajich; P C Gaskell; D A Krendel; D G Graham; D V Dawson; A D Roses
Journal:  Neurology       Date:  1987-09       Impact factor: 9.910

4.  A linkage study of the locus for X-linked Charcot-Marie-Tooth disease.

Authors:  P Goonewardena; J Welihinda; M Anvret; J Gyftodimou; A Haegermark; L Iselius; J Lindsten; U Pettersson
Journal:  Clin Genet       Date:  1988-06       Impact factor: 4.438

5.  A primary genetic map of the pericentromeric region of the human X chromosome.

Authors:  M M Mahtani; H F Willard
Journal:  Genomics       Date:  1988-05       Impact factor: 5.736

6.  Genetic mapping of nine DNA markers in the q11----q22 region of the human X chromosome.

Authors:  B Arveiler; I Oberlé; J L Mandel
Journal:  Genomics       Date:  1987-09       Impact factor: 5.736

7.  A family with Charcot-Marie-Tooth's disease, showing a probable X-linked incompletely dominant inheritance.

Authors:  L Iselius; L Grimby
Journal:  Hereditas       Date:  1982       Impact factor: 3.271

8.  X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

Authors:  A Gal; J Mücke; H Theile; P F Wieacker; H H Ropers; T F Wienker
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

9.  Linkage in a family with X-linked Charcot-Marie-Tooth disease.

Authors:  N Haites; N Fairweather; C Clark; K F Kelly; S Simpson; A W Johnston
Journal:  Clin Genet       Date:  1989-06       Impact factor: 4.438

10.  Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13.

Authors:  J Beckett; J J Holden; N E Simpson; B N White; P M MacLeod
Journal:  J Neurogenet       Date:  1986-07       Impact factor: 1.250
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  6 in total

Review 1.  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

Review 2.  Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.

Authors:  José Berciano; Antonio García; Elena Gallardo; Kristien Peeters; Ana L Pelayo-Negro; Silvia Álvarez-Paradelo; José Gazulla; Miriam Martínez-Tames; Jon Infante; Albena Jordanova
Journal:  J Neurol       Date:  2017-03-31       Impact factor: 4.849

3.  Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.

Authors:  Alejandro Leal; Kathrin Huehne; Finn Bauer; Heinrich Sticht; Philipp Berger; Ueli Suter; Bernal Morera; Gerardo Del Valle; James R Lupski; Arif Ekici; Francesca Pasutto; Sabine Endele; Ramiro Barrantes; Corinna Berghoff; Martin Berghoff; Bernhard Neundörfer; Dieter Heuss; Thomas Dorn; Peter Young; Lisa Santolin; Thomas Uhlmann; Michael Meisterernst; Michael Werner Sereda; Michael Sereda; Ruth Martha Stassart; Gerd Meyer zu Horste; Klaus-Armin Nave; André Reis; Bernd Rautenstrauss
Journal:  Neurogenetics       Date:  2009-03-17       Impact factor: 2.660

4.  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

5.  Linkage localization of X-linked Charcot-Marie-Tooth disease.

Authors:  J Bergoffen; J Trofatter; M A Pericak-Vance; J L Haines; P F Chance; K H Fischbeck
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

6.  X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.

Authors:  S Cochrane; J Bergoffen; N D Fairweather; E Müller; M L Mostacciuolo; A P Monaco; K H Fischbeck; N E Haites
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318
  6 in total

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