Sandbox GGC11: Difference between revisions
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'''Cataracts 9, multiple types''' | '''Cataracts 9, multiple types''' | ||
This disease is caused by mutations affecting the eye lens. | This disease is caused by mutations affecting the eye lens. One of those mutations is usually R116C where an arginine is mutated to a cysteine. R116C is generally linked to one form of autosomal congenital cataracts. Congenital cataracts refers to the opacification of the eye lens that occurs at birth while infantile cataracts refers to the opacification of eye lens that developed during the first year. <ref>PMID:26319346</ref> An opacification of the crystalline sense of the eye occurs, in most instances, may lead to impairment or blindness. Opacities vary in morphology it might be static or progressive. <ref>PMID:11123904</ref> | ||
'''Myopathy, Miofibrillar''' | '''Myopathy, Miofibrillar''' | ||
