Sandbox GGC5: Difference between revisions
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'''Myopathy, myofibrillar, 9, with early respiratory failure:''' | '''Myopathy, myofibrillar, 9, with early respiratory failure:''' | ||
This disease is characterized by adult onset of weakness in proximal, distal, axial and respiratory muscles. The main symptoms of onset are pelvic girdle and neck weakness. Ultimately, the weakness will affect the proximal compartment of both the upper and lower limbs. Additional symptoms include varying degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. In extreme cases, respiratory involvement will often lead to the requirement for non-invasive treatment. The natural variant indicating this disease can be found at position 279 and it disrupts NBR1-binding. | This disease is characterized by adult onset of weakness in proximal, distal, axial and respiratory muscles. The main symptoms of onset are pelvic girdle and neck weakness. Ultimately, the weakness will affect the proximal compartment of both the upper and lower limbs. Additional symptoms include varying degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. In extreme cases, respiratory involvement will often lead to the requirement for non-invasive treatment. The natural variant indicating this disease can be found at position 279 and it disrupts NBR1-binding. <ref>PMID:15802564</ref> | ||
'''Cardiomyopathy, familial hypertrophic 9:''' | '''Cardiomyopathy, familial hypertrophic 9:''' | ||
