Article
Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.
The Journal of clinical investigation - 1 Sept 1995
Kawai H, Akaike M, Endo T, Adachi K, Inui T, Mitsui T, Kashiwagi S, Fujiwara T, Okuno S, Shin S
Abstract excerpt
Homozygous adhalin gene mutations were found in three patients from two consanguineous families with autosomal recessive childhood onset muscular dystrophy. Muscle biopsies from patients in each family showed complete absence of adhalin. Sequencing of adhalin cDNA prepared from skeletal muscle by...
Topics
- Adult
- Age of Onset
- Amino Acid Sequence
- Base Sequence
- Biopsy
- Child
- Consanguinity
- Cytoskeletal Proteins
- DNA Primers
- DNA Transposable Elements
- DNA, Complementary
- Female
- Genes, Recessive
- Homozygote
- Humans