Literature DB >> 2265831

Assignment of the gene for central core disease to chromosome 19.

E A Haan1, C J Freemantle, J A McCure, K L Friend, J C Mulley.   

Abstract

In a large kindred in which the gene for central core disease is segregating, we have demonstrated linkage between the disorder and a marker on chromosome 19q. Marker D19S9 (p1J2) was linked to central core disease with a lod score of 6.4 at theta = 0.03 (support interval 0.01-0.14) thus localizing the gene for this disorder in or very close to 19q12-q13.2.

Mesh：

Substances：

Year:  1990        PMID： 2265831     DOI： 10.1007/bf00197703

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


  17 in total

1.  Oxidative enzymes and phosphorylase in central-core disease of muscle.

Authors:  V DUBOWITZ; A G PEARSE
Journal:  Lancet       Date:  1960-07-02       Impact factor: 79.321

2.  A new congenital non-progressive myopathy.

Authors:  K R MAGEE; G M SHY
Journal:  Brain       Date:  1956-12       Impact factor: 13.501

3.  Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study.

Authors:  H Isaacs; J J Heffron; M Badenhorst
Journal:  J Neurol Neurosurg Psychiatry       Date:  1975-12       Impact factor: 10.154

4.  A computer program for linkage analysis of general human pedigrees.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

Review 5.  Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms.

Authors:  K K Kidd; A M Bowcock; J Schmidtke; R K Track; F Ricciuti; G Hutchings; A Bale; P Pearson; H F Willard; J Gelernter
Journal:  Cytogenet Cell Genet       Date:  1989

Review 6.  Report of the committee on the genetic constitution of chromosomes 18 and 19.

Authors:  M M Le Beau; D Ryan; M A Pericak-Vance
Journal:  Cytogenet Cell Genet       Date:  1989

7.  Familial non-progressive myopathy with muscle cramps after exercise. A new disease associated with cores in the muscle fibres.

Authors:  J Bethlem; J van Gool; W C Hülsmann; A E Meijer
Journal:  Brain       Date:  1966-09       Impact factor: 13.501

8.  Central core disease. Clinical features in 13 patients.

Authors:  A Shuaib; R T Paasuke; K W Brownell
Journal:  Medicine (Baltimore)       Date:  1987-09       Impact factor: 1.889

9.  Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14.

Authors:  J C Mulley; A K Gedeon; K A Thorn; L J Bates; G R Sutherland
Journal:  Am J Med Genet       Date:  1987-06

10.  Central core disease and malignant hyperthermia syndrome.

Authors:  J P Frank; Y Harati; I J Butler; T E Nelson; C I Scott
Journal:  Ann Neurol       Date:  1980-01       Impact factor: 10.422
View more
  10 in total

1.  Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

Authors:  N G Laing; B T Majda; P A Akkari; M G Layton; J C Mulley; H Phillips; E A Haan; S J White; A H Beggs; L M Kunkel
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

2.  Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.

Authors:  T Deufel; A Golla; D Iles; A Meindl; T Meitinger; D Schindelhauer; A DeVries; D Pongratz; D H MacLennan; K J Johnson
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

3.  Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17.

Authors:  M C Koch; K Ricker; M Otto; T Grimm; E P Hoffman; R Rüdel; K Bender; B Zoll; P S Harper; F Lehmann-Horn
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

4.  Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.

Authors:  I Moroni; E F Gonano; G P Comi; V Tegazzin; A Prelle; A Bordoni; N Bresolin; G Scarlato
Journal:  J Neurol       Date:  1995-02       Impact factor: 4.849

Review 5.  Investigation of muscle disease.

Authors:  F L Mastaglia; N G Laing
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-03       Impact factor: 10.154

6.  Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.

Authors:  L Fananapazir; M C Dalakas; F Cyran; G Cohn; N D Epstein
Journal:  Proc Natl Acad Sci U S A       Date:  1993-05-01       Impact factor: 11.205

7.  Refined genetic localization for central core disease.

Authors:  J C Mulley; H M Kozman; H A Phillips; A K Gedeon; J A McCure; D E Iles; R G Gregg; K Hogan; F J Couch; D H MacLennan
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

Review 8.  The genetics of malignant hyperthermia.

Authors:  S P Ball; K J Johnson
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

9.  Characterization of functional TRPV1 channels in the sarcoplasmic reticulum of mouse skeletal muscle.

Authors:  Sabine Lotteau; Sylvie Ducreux; Caroline Romestaing; Claude Legrand; Fabien Van Coppenolle
Journal:  PLoS One       Date:  2013-03-11       Impact factor: 3.240

Review 10.  Central core disease.

Authors:  Heinz Jungbluth
Journal:  Orphanet J Rare Dis       Date:  2007-05-15       Impact factor: 4.123
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.