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Intermediate filament diseases
Mutation in cytokeratin gene (skin blister) = epidermolysis bullosa simplex
Mutation in desmin gene = familiar cardiomyopathy
Mutation in neurofilament (multiple genetic, environmental factors) - progressive loss motoneurons --> muscle atrophy, paralysis = ALS (amyotrophic lateral sclerosis; Lou Gehrigs disease)
Intermediate filament junctions
Spot desmosome (macula adherens) - cadherins, catenins, cytoplasmic plaque
Hemidesmosome - link cell to basal membrane
Intermediate junction disease
Pemphigus, bullous pemphigoid - severe skin blisters due to autoantibodies against desmosomal, hemidesmosomal proteins
* it´s damage is involved in pathomechanism of pemphigus disease = spot desmosome - not hemidesmosome
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