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chlorocresol and Autosomal Dominant Myotubular Myopathy

chlorocresol has been researched along with Autosomal Dominant Myotubular Myopathy in 2 studies

chlorocresol: injections for relief of intractable pain; RN given refers to parent cpd
4-chloro-m-cresol : A hydroxytoluene that is 3-methylphenol which is substituted by a chlorine at position 4. A ryanodine receptor agonist.

Research Excerpts

ExcerptRelevanceReference
"Mutations in the RYR1 gene are linked to malignant hyperthermia (MH), central core disease and multi-minicore disease."1.35Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. ( Carsana, A; De Sarno, C; Di Noto, R; Ferrara, M; Fortunato, G; Gravino, E; Klingler, W; Lehmann-Horn, F; Melzer, W; Perrotta, G; Salvatore, F; Zullo, A, 2009)
"Centronuclear myopathy is a genetically heterogeneous congenital myopathy."1.34Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. ( Bitoun, M; Bönnemann, C; Buj-Bello, A; Guicheney, P; Jungbluth, H; Muntoni, F; Robb, S; Sewry, CA; Treves, S; Zhou, H, 2007)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Zullo, A1
Klingler, W1
De Sarno, C1
Ferrara, M1
Fortunato, G1
Perrotta, G1
Gravino, E1
Di Noto, R1
Lehmann-Horn, F1
Melzer, W1
Salvatore, F1
Carsana, A1
Jungbluth, H1
Zhou, H1
Sewry, CA1
Robb, S1
Treves, S1
Bitoun, M1
Guicheney, P1
Buj-Bello, A1
Bönnemann, C1
Muntoni, F1

Other Studies

2 other studies available for chlorocresol and Autosomal Dominant Myotubular Myopathy

ArticleYear
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.
    Human mutation, 2009, Volume: 30, Issue:4

    Topics: B-Lymphocytes; Cell Line, Transformed; Chromatography, High Pressure Liquid; Cresols; DNA Mutational

2009
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
    Neuromuscular disorders : NMD, 2007, Volume: 17, Issue:4

    Topics: Adolescent; Calcium; Cresols; DNA Mutational Analysis; Dose-Response Relationship, Drug; Female; Gen

2007