A mutation in the human ryanodine receptor gene associated with central core disease
| Autor: | Schappert K, De Leon S, Michael S. Phillips, David H. MacLennan, Browell Ak, Chen Hs, Yilin Zhang, Vijay K. Khanna, Beverley A. Britt |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Male
Sequence analysis Swine Molecular Sequence Data Muscle Proteins Biology Myopathies Nemaline Polymerase Chain Reaction Species Specificity Genetics medicine Animals Humans Point Mutation Amino Acid Sequence Myopathy Genes Dominant RYR1 Base Sequence Sequence Homology Amino Acid urogenital system Ryanodine receptor Point mutation Malignant hyperthermia Ryanodine Receptor Calcium Release Channel equipment and supplies medicine.disease Molecular biology Pedigree Genes Mutation (genetic algorithm) Female Calcium Channels Rabbits medicine.symptom Lod Score Malignant Hyperthermia Chromosomes Human Pair 19 Sequence Alignment Central core disease |
| Zdroj: | Nature genetics. 5(1) |
| ISSN: | 1061-4036 |
| Popis: | Central core disease (CCD) is a morphologically distinct, autosomal dominant myopathy with variable clinical features. A close association with malignant hyperthermia (MH) has been identified. Since MH and CCD genes have been linked to the skeletal muscle ryanodine receptor (RYR1) gene, cDNA sequence analysis was used to search for a causal RYR1 mutation in a CCD individual. The only amino acid substitution found was an Arg2434His mutation, resulting from the substitution of A for G7301. This mutation was linked to CCD with a lod score of 4.8 at a recombinant fraction of 0.0 in 16 informative meioses in a 130 member family, suggesting a causal relationship to CCD. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|