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(for at least one location)
Describes the nature of a clinical study. Types include:
The proposed studies are important for diagnosis and prevention of congenital myasthenic syndromes (CMS), for investigating disease pathophysiology, for developing strategies for therapy, and for gaining insights into structure-function relationships of EP-specific proteins.
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The proposed aim is to correlate clinical and muscle biopsy findings in patients suffering from neuromuscular diseases, such as inflammatory muscle diseases, defects of neuromuscular transmission and degenerative muscle disease with long term outcome and response to therapy. Plan to review records of patients with categories of muscle diseases, such as polymyositis, myofibrillar myopathy, or congenital myasthenic syndromes and analyze these records according to the documented clinical or muscle biopsy features.
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