Sandbox GGC5: Difference between revisions

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==Titin==

~~<StructureSection load='1TIT' size='340' side='right' caption='Caption for this structure' scene=''>~~

~~This is a default text for your page '''Sandbox GGC5'''. Click above on '''edit this page''' to modify. Be careful with the < and > signs.~~

~~You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref> or to the article describing Jmol <ref>PMID:21638687</ref> to the rescue.~~

== Function ==

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'''Muscular dystrophy, limb-girdle, autosomal recessive 10:'''

This disease is characterized by progressive weakness of the pelvic and shoulder girdle muscles. Muscular dystrophy is an autosomal recessive denerative myopathy that results in severe disability observed within 20 years of its onset.

'''Salih myopathy:'''

This myyopathy is an autosomal recessive, early-onset muscular disorder. This disease is characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Minicore-like lesions with mitochondrial depletion and sarcomere disorganization and cenralized nuclei are present in the skeletal muscle biopsies of affected individuals. Cardiac muscle biopsies display a disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. This disease can result in sudden death. Mutagenesis occurs in positions 32207 and 32341 and disrupts catalytic activity.

== Relevance ==

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@@ Line 1: / Line 1: @@
 ==Titin==
-<StructureSection load='1TIT' size='340' side='right' caption='Caption for this structure' scene=''>
-This is a default text for your page '''Sandbox GGC5'''. Click above on '''edit this page''' to modify. Be careful with the &lt; and &gt; signs.
-You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref> or to the article describing Jmol <ref>PMID:21638687</ref> to the rescue.
 == Function ==
@@ Line 27: / Line 24: @@
 '''Muscular dystrophy, limb-girdle, autosomal recessive 10:'''
+This disease is characterized by progressive weakness of the pelvic and shoulder girdle muscles. Muscular dystrophy is an autosomal recessive denerative myopathy that results in severe disability observed within 20 years of its onset.
+'''Salih myopathy:'''
+This myyopathy is an autosomal recessive, early-onset muscular disorder. This disease is characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Minicore-like lesions with mitochondrial depletion and sarcomere disorganization and cenralized nuclei are present in the skeletal muscle biopsies of affected individuals. Cardiac muscle biopsies display a disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. This disease can result in sudden death. Mutagenesis occurs in positions 32207 and 32341 and disrupts catalytic activity.
 == Relevance ==