Literature DB >> 6787200

Coincidence of neurofibromatosis and myotonic dystrophy in a kindred.

K Ichikawa, C J Crosley, A Culebras, L Weitkamp.   

Abstract

Neurofibromatosis and myotonic dystrophy have occurred in ten members of a nonconsanguineous family with a high degree of concordance. The expression of neurofibromatosis is peripheral, and the expression of myotonic dystrophy has produced at least moderately severe disability. Neither disease has appeared to alter the phenotypic expression of the other when both have occurred simultaneously. Secretor typing supports the assumption that the myotonic dystrophy in this family is the commonly recognised secretor-linked entity. The segregation pattern of the two disorders in this family suggest the possibility of close linkage between the loci for neurofibromatosis and myotonic dystrophy.

Entities:  

Mesh：

Year:  1981        PMID： 6787200      PMCID： PMC1048686          DOI： 10.1136/jmg.18.2.134

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  Coincidence of Huntington's Chorea and Multiple neurofibromatosis in two generations.

Authors:  J S PEARSON; M C PETERSEN
Journal:  Am J Hum Genet       Date:  1954-09       Impact factor: 11.025

2.  Myotonic dystrophy, acute intermittent porphyria and neurofibromatosis in one patient.

Authors:  W Pruzanski; H Adler
Journal:  Acta Genet Stat Med       Date:  1966

3.  Genetic linkage confirmed between the locus for myotonic dystrophy and the ABH-secretion and Lutheran blood group loci.

Authors:  P S Harper; M L Rivas; W B Bias; J R Hutchinson; P R Dyken; V A McKusick
Journal:  Am J Hum Genet       Date:  1972-05       Impact factor: 11.025

4.  The familial association of neurofibromatosis, peroneal muscular atrophy, congenital deafness, partial albinism, and Axenfeld's defect.

Authors:  W G Bradley; J Richardson; I J Frew
Journal:  Brain       Date:  1974-09       Impact factor: 13.501

5.  [Existence of Recklinghausen's neurofibromatosis and Steinert's myotonia atrophica in the same family].

Authors:  P KISSEL; G ARNOULD
Journal:  Rev Neurol (Paris)       Date:  1954       Impact factor: 2.607

6.  A family with coexistent von Recklinghausen's neurofibromatosis and von Hippel-Lindau's disease. Diseases possibly derived from a common gene.

Authors:  P V Tishler
Journal:  Neurology       Date:  1975-09       Impact factor: 9.910
  6 in total
  9 in total

1.  Myotonic dystrophy and hyperparathyroidism: association with neurofibromatosis and multiple endocrine adenomatosis type 2A.

Authors:  N L Rosenberg; J H Diliberti; A M Andrews; N R Buist
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-12       Impact factor: 10.154

Review 2.  Gene mapping and chromosome 19.

Authors:  D J Shaw; J D Brook; A L Meredith; H G Harley; M Sarfarazi; P S Harper
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

3.  Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.

Authors:  S M Huson; A L Meredith; M Sarfarazi; D J Shaw; D A Compston; P S Harper
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

4.  A genomic search for linkage of neurofibromatosis to RFLPs.

Authors:  D Barker; E Wright; K Nguyen; L Cannon; P Fain; D Goldgar; D T Bishop; J Carey; J Kivlin; H Willard
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

5.  The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers.

Authors:  T C Gilliam; P Scambler; T Robbins; C Ingle; R Williamson; K E Davies
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  Localisation of genetic markers and orientation of the linkage group on chromosome 19.

Authors:  J D Brook; D J Shaw; L Meredith; G A Bruns; P S Harper
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  Linkage analysis of neurofibromatosis (von Recklinghausen disease).

Authors:  M A Spence; J L Bader; D M Parry; L L Field; S J Funderburk; A E Rubenstein; P A Gilman; R S Sparkes
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

8.  Intestinal carcinoid tumor and myotonic dystrophy. A new association?

Authors:  J M Reimund; B Duclos; P Chamouard; J M Warter; J P Weill; R Baumann
Journal:  Dig Dis Sci       Date:  1992-12       Impact factor: 3.199

Review 9.  Hypothesis: neoplasms in myotonic dystrophy.

Authors:  Christine M Mueller; James E Hilbert; William Martens; Charles A Thornton; Richard T Moxley; Mark H Greene
Journal:  Cancer Causes Control       Date:  2009-12       Impact factor: 2.506
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.