Nonaka Myopathy: A case report.
- Author:
Peter KW LEE
1
;
Eun Jin KIM
;
Chang Seok KI
;
Jong Won KIM
Author Information
1. Department of Physical Medicine and Rehabilitation, Samsung Medical Center, Sungkyunkwan University School of Medicine, Korea.jijel95@hanmail.net
- Publication Type:Case Report
- Keywords:
Nonaka myopathy (NM);
Distal myopathy with rimmed vacuoles;
Hereditary inclusion body myopathy (HIBM);
UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) mutation
- MeSH:
Biopsy;
Creatine Kinase;
Diagnosis, Differential;
Distal Myopathies;
Humans;
Korea;
Leg;
Muscular Diseases*;
Phosphotransferases;
Quadriceps Muscle;
Vacuoles
- From:Journal of the Korean Academy of Rehabilitation Medicine
2004;28(3):288-291
- CountryRepublic of Korea
- Language:Korean
-
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 the identified 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.
