Huang Y.-N.HUNG-JUI CHUANGHSUEH-WEN HSUEHHSIN-CHIEH HUANGNI-CHUNG LEECHI-CHAO CHAOPEI-HSIN HUANGLee Y.-C.Lin K.-P.CHIH-CHAO YANGSUNG-TSANG HSIEH2020-12-102020-12-102020-11-011351-5101https://scholars.lib.ntu.edu.tw/handle/123456789/525306A 36-year-old woman who presented with upper limb distal weakness since the age of 15 years, with gradual progression to the lower limbs, is reported. Hereditary motor neuropathy was initially suspected based on distal weakness and hyporeflexia; however, whole exome sequencing accidentally revealed a compound heterozygous variant in the GNE gene, and ultrasound revealed increased homogeneous echogenicity in the involved muscles, which is characteristic of myopathic changes. Muscle magnetic resonance imaging revealed fatty infiltration in all limb muscles, sparing the triceps brachii, vastus lateralis and vastus medialis. Muscle biopsy revealed intracytoplasmic rimmed vacuole, supporting the diagnosis of GNE myopathy.enGNE myopathy; muscle MRI; muscle ultrasound; next generation sequencing[SDGs]SDG3creatine kinase; genomic DNA; multienzyme complex; adult; Article; atrophy; biceps brachii muscle; biceps femoris muscle; case report; clinical article; disease severity; echography; electromyography; female; gastrocnemius muscle; gene; gne gene; hereditary motor neuropathy; human; human tissue; hyporeflexia; limb weakness; motor neuropathy; muscle biopsy; muscle strength; myopathy; nerve conduction; nuclear magnetic resonance imaging; pathogenesis; peroneus nerve paralysis; priority journal; rectus femoris muscle; semitendinous muscle; tibialis anterior muscle; udp n acetylglucosamine 2 epimerase n acetylmannosamine kinase myopathy; upper limb; whole exome sequencing; adolescent; distal myopathy; genetics; skeletal muscle; Adolescent; Adult; Distal Myopathies; Female; Humans; Magnetic Resonance Imaging; Multienzyme Complexes; Muscle, Skeletaljournal article10.1111/ene.1448932860282WOS:000578714700052