Abstract
In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for RYR1 and presented with the non-synonymous change c.11315G>A/p.R3772Q. When present in the homozygous state c.11315*A is associated with myopathic symptoms.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Aged
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Asian People
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Consanguinity
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DNA / genetics
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DNA, Complementary / biosynthesis
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DNA, Complementary / genetics
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Family
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Female
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Genes, Dominant
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Genes, Recessive
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Humans
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Immunohistochemistry
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Male
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Malignant Hyperthermia / genetics*
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Middle Aged
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Muscle, Skeletal / pathology
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Muscular Diseases / congenital
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Muscular Diseases / genetics*
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Pedigree
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Phenotype
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Ryanodine Receptor Calcium Release Channel / genetics*
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Spasm / genetics
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Spasm / pathology
Substances
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DNA, Complementary
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Ryanodine Receptor Calcium Release Channel
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DNA