The genetic basis of neuromuscular disorders

R Nawrotzki, DJ Blake, KE Davies - Trends in Genetics, 1996 - cell.com
R Nawrotzki, DJ Blake, KE Davies
Trends in Genetics, 1996cell.com
FIGURE 1. Yodel of dystrophin and ib a. ssociatcul proteins at the mu. & membrane. In
normal skeletal muscle. the N-terminal domain of d!* trophm binds cyto\keletal sctin. The
cental pan of the molecule consish of repealed spectrin-like sequences. At its C-terminus.
dyblrophin 15 asxxi: wd wth 3 protein complex consisting of. xveml s&complexes.
dystroglycan, the 25 kDa dystlophin-associated prorem (? iDAP). the wcoglycan complex
and dystrobrevin*. The extracellular glycoprotein a-dystroglycan hinds to laminin-2. thereby …
FIGURE 1. Yodel of dystrophin and ib a. ssociatcul proteins at the mu. & membrane. In normal skeletal muscle. the N-terminal domain of d!* trophm binds cyto\keletal sctin. The cental pan of the molecule consish of repealed spectrin-like sequences. At its C-terminus. dyblrophin 15 asxxi: wd wth 3 protein complex consisting of. xveml s&complexes. dystroglycan, the 25 kDa dystlophin-associated prorem (? iDAP). the wcoglycan complex and dystrobrevin*. The extracellular glycoprotein a-dystroglycan hinds to laminin-2. thereby effectively hnking the a&t-bawd cytoskeleton (3 dystrophin to the extracellular matnx. Mutatmns in memben of the~ rcoglycan complex have recently been idrntificd in autosomal recessive muscular dyatrophieb. Boxes indicate the chromosomal ocation of the human genes and. in wmc in~ tzces. inherited diseases aswciated wth mutations in the retpwtiw genes. all the remaining mutations in patients with DMD and
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