Article
Mutations in the integrin alpha7 gene cause congenital myopathy.
Nature genetics - 1 May 1998
Hayashi Y K, Chou F L, Engvall E, Ogawa M, Matsuda C, Hirabayashi S, Yokochi K, Ziober B L, Kramer R H, Kaufman S J, Ozawa E, Goto Y, Nonaka I, Tsukahara T, Wang J Z, Hoffman E P, Arahata K
Abstract excerpt
The basal lamina of muscle fibers plays a crucial role in the development and function of skeletal muscle. An important laminin receptor in muscle is integrin alpha7beta1D. Integrin beta1 is expressed throughout the body, while integrin alpha7 is more muscle-specific. To address the role of integ...
Topics
- Antigens, CD
- Base Sequence
- Child
- Child, Preschool
- Cloning, Molecular
- DNA, Complementary
- Female
- Humans
- Infant
- Integrin alpha Chains
- Male
- Molecular Sequence Data
- Muscle, Skeletal
- Muscular Diseases
- Mutation