Page last updated: 2024-10-28

halothane and Central Core Disease

halothane has been researched along with Central Core Disease in 5 studies

Research Excerpts

ExcerptRelevanceReference
"Central core disease (CCD) and nemaline myopathy (NM) are congenital myopathies for which differential diagnosis is often based on the presence either of cores or rods."1.31An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. ( Fardeau, M; Lerale, J; Lunardi, J; MacLennan, DH; Monnier, N; Nivoche, Y; Qi, D; Romero, NB, 2000)

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's5 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Robinson, RL1
Brooks, C1
Brown, SL1
Ellis, FR1
Halsall, PJ1
Quinnell, RJ1
Shaw, MA1
Hopkins, PM1
Rueffert, H1
Olthoff, D1
Deutrich, C1
Schober, R1
Froster, UG1
Brown, RL1
Pollock, AN1
Couchman, KG1
Hodges, M1
Hutchinson, DO1
Waaka, R1
Lynch, P1
McCarthy, TV1
Stowell, KM1
Monnier, N1
Romero, NB1
Lerale, J1
Nivoche, Y1
Qi, D1
MacLennan, DH1
Fardeau, M1
Lunardi, J1
Stojkovic, T1
Maurage, CA1
Moerman, A1
Hurtevent, JF1
Krivosic-Horber, R1
Pellissier, JF1
Vermersch, P1

Other Studies

5 other studies available for halothane and Central Core Disease

ArticleYear
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
    Human mutation, 2002, Volume: 20, Issue:2

    Topics: Anesthetics, Inhalation; Caffeine; Central Nervous System Stimulants; Exons; Female; Halothane; Huma

2002
A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.
    American journal of medical genetics. Part A, 2004, Jan-30, Volume: 124A, Issue:3

    Topics: Adolescent; Base Sequence; Caffeine; DNA; DNA Mutational Analysis; Dysostoses; Family Health; Female

2004
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.
    Human molecular genetics, 2000, Jun-12, Volume: 9, Issue:10

    Topics: Amino Acid Sequence; Anesthetics, Inhalation; Chromosomes, Human, Pair 19; DNA Mutational Analysis;

2000
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
    Human molecular genetics, 2000, Nov-01, Volume: 9, Issue:18

    Topics: Amino Acid Substitution; Caffeine; Calcium; Cell Line; DNA Mutational Analysis; Female; France; Gene

2000
Congenital myopathy with central cores and fingerprint bodies in association with malignant hyperthermia susceptibility.
    Neuromuscular disorders : NMD, 2001, Volume: 11, Issue:6-7

    Topics: Adult; Anesthetics, Inhalation; Biopsy; Caffeine; Central Nervous System Stimulants; Halothane; Huma

2001