1eg3: Difference between revisions
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{{STRUCTURE_1eg3| PDB=1eg3 | SCENE= }} | {{STRUCTURE_1eg3| PDB=1eg3 | SCENE= }} | ||
===STRUCTURE OF A DYSTROPHIN WW DOMAIN FRAGMENT IN COMPLEX WITH A BETA-DYSTROGLYCAN PEPTIDE=== | |||
{{ABSTRACT_PUBMED_10932245}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/DMD_HUMAN DMD_HUMAN]] Defects in DMD are the cause of Duchenne muscular dystrophy (DMD) [MIM:[http://omim.org/entry/310200 310200]]. DMD is the most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.<ref>PMID:8401582</ref><ref>PMID:7981690</ref><ref>PMID:8817332</ref><ref>PMID:9851445</ref> Defects in DMD are the cause of Becker muscular dystrophy (BMD) [MIM:[http://omim.org/entry/300376 300376]]. BMD resembles DMD in hereditary and clinical features but is later in onset and more benign.<ref>PMID:10573008</ref> Defects in DMD are a cause of cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:[http://omim.org/entry/302045 302045]]; also known as X-linked dilated cardiomyopathy (XLCM). Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.<ref>PMID:9170407</ref><ref>PMID:12354438</ref><ref>PMID:12359139</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/DMD_HUMAN DMD_HUMAN]] Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission.<ref>PMID:16710609</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:010932245</ref><references group="xtra"/> | <ref group="xtra">PMID:010932245</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Eck, M J.]] | [[Category: Eck, M J.]] | ||
