New missense mutation in the alpha-sarcoglycan gene in a Japanese patient with severe childhood autosomal recessive muscular dystrophy with incomplete alpha-sarcoglycan deficiency
| Autor: | Masanori Nakagawa, Makoto Kunishige, Hiroyuki Iwaki, Mitsuhiro Osame, Itsuro Higuchi, Hisaomi Kawai, Takenori Endo, Hidetoshi Fukunaga, Kimiyoshi Arimura |
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| Rok vydání: | 1997 |
| Předmět: |
Adult
Male musculoskeletal diseases congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Nonsense mutation Neural Conduction Action Potentials Chromosome Disorders Genes Recessive Biology Gene mutation Polymerase Chain Reaction Muscular Dystrophies Exon Sarcoglycans Internal medicine medicine Humans Missense mutation Muscular dystrophy Muscle Skeletal Chromosome Aberrations Genetics Membrane Glycoproteins Muscle biopsy medicine.diagnostic_test Electromyography musculoskeletal system medicine.disease Immunohistochemistry Cytoskeletal Proteins Sarcoglycan Endocrinology Neurology Mutation Mutation (genetic algorithm) Neurology (clinical) |
| Zdroj: | Journal of the Neurological Sciences. 153:100-105 |
| ISSN: | 0022-510X |
| Popis: | A new homozygous alpha-sarcoglycan (adhalin) gene mutation was found in a Japanese patient with severe childhood autosomal recessive muscular dystrophy (SCARMD). Muscle biopsy specimens from the patient showed marked reduction but not complete deficiency of alpha-sarcoglycan. The sequence of part of exon 3 of the alpha-sarcoglycan gene exhibited a cytosine to thymidine substitution at nucleotide position 220. Since the same mutation was not found in 100 normal control samples, this new alpha-sarcoglycan gene mutation is not a polymorphism but is presumed to be responsible for the marked reduction of alpha-sarcoglycan in skeletal muscle. Most patients with homozygous alpha-sarcoglycan gene mutation were reported to show complete alpha-sarcoglycan deficiency. Present case showed the homozygous missense mutation of alpha-sarcoglycan and associated with incomplete alpha-sarcoglycan deficiency and severe clinical phenotype. |
| Databáze: | OpenAIRE |
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