Objective To analyze the clinical manifestations,skeletal muscle pathology,electromyography,skeletal muscle magnetic resonance imaging and gene mutations of a family with distant-onset DnaJ(heat-shock protein 40)homol...Objective To analyze the clinical manifestations,skeletal muscle pathology,electromyography,skeletal muscle magnetic resonance imaging and gene mutations of a family with distant-onset DnaJ(heat-shock protein 40)homolog subfamily B member 6(DNAJB6)myopathy.Methods A total of three generations with three cases of the disease in a family,inherited by autosomal dominant inheritance,were collected.展开更多
文摘Objective To analyze the clinical manifestations,skeletal muscle pathology,electromyography,skeletal muscle magnetic resonance imaging and gene mutations of a family with distant-onset DnaJ(heat-shock protein 40)homolog subfamily B member 6(DNAJB6)myopathy.Methods A total of three generations with three cases of the disease in a family,inherited by autosomal dominant inheritance,were collected.