hereditary myopathy with early respiratory failure

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hereditary myopathy with early respiratory failure

An autosomal dominant adult-onset myopathy (OMIM:603689) characterised by early proximal weakness of the upper and lower extremities accompanied by respiratory muscle involvement, especially of the diaphragm.

Molecular pathology
Defects of TTN, which encodes a critical protein in striated muscle, cause hereditary myopathy with early respiratory failure.
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