[Sibling cases of four and a half LIM domains 1 (FHL1) myopathy who developed respiratory failure without apparent limb weakness].

Abstract excerpt

A 60-year-old man developed dyspnea without apparent limb weakness. He had cardiomyopathy in his 30s and was treated for chronic heart failure since 42. He was diagnosed as having four and a half LIM domains 1 (FHL1) mutation at 53 following the same diagnosis of his younger brother. He was first admitted to the cardiology department for possible worsening of chronic cardiac failure. Blood gas analysis showing...

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