Article
New missense mutation in the alpha-sarcoglycan gene in a Japanese patient with severe childhood autosomal recessive muscular dystrophy with incomplete alpha-sarcoglycan deficiency.
Journal of the neurological sciences - 9 Dec 1997
Higuchi I, Iwaki H, Kawai H, Endo T, Kunishige M, Fukunaga H, Nakagawa M, Arimura K, Osame M
Abstract excerpt
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...
Topics
- Action Potentials
- Adult
- Chromosome Aberrations
- Chromosome Disorders
- Cytoskeletal Proteins
- Electromyography
- Genes, Recessive
- Humans
- Immunohistochemistry
- Male
- Membrane Glycoproteins