Literature DB >> 1889818

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.

K Kausch1, F Lehmann-Horn, M Janka, B Wieringa, T Grimm, C R Müller.   

Abstract

Central core disease of muscle (CCD; MIM 117000) is a rare inheritable myopathy that is frequently found in association with susceptibility to malignant hyperthermia (MHS). This observation has prompted us to perform a linkage study in CCD families using various chromosome 19q probes that are linked to the MHS locus and map close to the ryanodine receptor gene (RYR1), a strong MHS candidate gene. Our genetic linkage data support a location of the CCD gene on proximal 19q13.1 and thus suggest that CCD and MHS may be allelic.

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Year:  1991        PMID： 1889818     DOI： 10.1016/0888-7543(91)90461-m

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  11 in total

1.  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

Review 2.  Genetic analysis of voltage-dependent calcium channels.

Authors:  C F Fletcher; N G Copeland; N A Jenkins
Journal:  J Bioenerg Biomembr       Date:  1998-08       Impact factor: 2.945

3.  The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree.

Authors:  A M Adeokun; S P West; F R Ellis; P J Halsall; P M Hopkins; A M Foroughmand; D E Iles; R L Robinson; A D Stewart; J L Curran
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

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.  Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor.

Authors:  G Avila; R T Dirksen
Journal:  J Gen Physiol       Date:  2001-09       Impact factor: 4.086

7.  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

8.  Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia.

Authors:  José M Eltit; Xudong Ding; Isaac N Pessah; Paul D Allen; José R Lopez
Journal:  FASEB J       Date:  2012-11-16       Impact factor: 5.191

9.  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

10.  A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy.

Authors:  Seul-Ki Jeong; Dong-Chan Kim; Yong-Gon Cho; Il-Nam Sunwoo; Dal-Sik Kim
Journal:  J Clin Neurol       Date:  2008-09-30       Impact factor: 3.077
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