GENETIC ENCYCLOPEDIA
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disease: Hereditary myopathy with early respiratory failure

id5245
nameHereditary myopathy with early respiratory failure
descriptionHereditary myopathy with early respiratory failure (HMERF) is a slowly progressive myopathy that typically begins in the third to fifth decades of life. The usual presenting findings are gait disturbance relating to distal leg weakness or nocturnal respiratory symptoms due to respiratory muscle weakness. Weakness eventually generalizes and affects both proximal and distal muscles. Most affected individuals require walking aids within a few years of onset; some progress to wheelchair dependence and require nocturnal noninvasive ventilatory support. The disease course varies even among individuals within the same family: some remain ambulant until their 70s whereas others may require ventilator support in their 40s.
variant-disease NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) AND Hereditary myopathy with early respiratory failure
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp) AND Hereditary myopathy with early respiratory failure
NM_133378.4(TTN):c.46765A>G (p.Lys15589Glu) AND Hereditary myopathy with early respiratory failure
TTN:c.4715G>A (p.Arg1572Gln) AND Hereditary myopathy with early respiratory failure
NM_133378.4(TTN):c.92875G>A (p.Val30959Ile) AND Hereditary myopathy with early respiratory failure
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