Nonaka Myopathy: A case report.

, Lee, Peter KW; , Kim, Eun Jin; , Ki, Chang Seok; , Kim, Jong Won

Case Report

Journal of the Korean Academy of Rehabilitation Medicine 2004;28(3):288-291.

Lee, Peter KW , Kim, Eun Jin , Ki, Chang Seok , Kim, Jong Won

¹Department of Physical Medicine and Rehabilitation, Samsung Medical Center, Sungkyunkwan University School of Medicine, Korea.jijel95@hanmail.net
²Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Korea.

Nonaka 근병증 ⁣증례 보고⁣

이강우, 김은진, 기창석¹, 김종원¹

성균관대학교 의과대학 삼성서울병원 재활의학과, ¹진단검사의학과

Abstract

Nonaka myopathy (NM) or distal myopathy with rimmed vacuoles was an autosomal recessive muscle disease with preferential involvement of the tibialis anterior and sparing quadriceps muscles in young adulthood. Patients with NM usually showed slightly elevated serum creatine kinase (CK) levels and characteristic rimmed vacuoles in muscle biopsy. Recently, the UDP-N-acetylglucosamine-2-epimerase/N-ace- tylmannosamine kinase (GNE) gene was identified as theidentified as the causative gene for NM. Here we reported a NM patient carrying homozygous mutations (V572L) of the GNE gene. To the best of our knowledge, this was the first report of genetically confirmed NM in Korea and NM should be included in the differential diagnosis of slowly progressive weakness of distal legs. (J Korean Acad Rehab Med 2004; 28: 288-291)

Key Words: Nonaka myopathy (NM), Distal myopathy with rimmed vacuoles, Hereditary inclusion body myopathy (HIBM), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) mutation