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Distal myopathy with ADSSL1 mutations in Korean patients
- Distal myopathy with ADSSL1 mutations in Korean patients
- Park, Hyung Jun; Shin, Ha Young; Kim, Sungjun; Kim, Se Hoon; Lee, Yunbeom; Lee, Jung Hwan; Hong, Ji-Man; Kim, Seung Mm; Park, Kee Duk; Choi, Byung-Ok; Lee, Ji Hyun; Choi, Young-Chul
- Ewha Authors
- 박기덕; 박형준
- SCOPUS Author ID
- 박기덕; 박형준
- Issue Date
- Journal Title
- NEUROMUSCULAR DISORDERS
- 0960-8966; 1873-2364
- vol. 27, no. 5, pp. 465 - 472
- ADSSL1; Distal myopathy; Muscle MRI; Diagnosis; Phenotype-genotype correlation
- PERGAMON-ELSEVIER SCIENCE LTD
- SCI; SCIE; SCOPUS
- To understand the characteristics of ADSSL1 myopathy, we investigated the clinical manifestation in Korean patients with ADSSL1 mutations. We developed a targeted panel of 16 distal-myopathy genes and recruited a total of 12 patients with genetically undetermined distal myopathy. We found four (33%) with ADSSL1 mutations and one (8%) with GNE mutations. ADSSL1 mutations consisted of c.910G>A, c.1048delA and c.1220T>C mutations. Patients with ADSSL1 mutations demonstrated distal muscle weakness in adolescence, followed by quadriceps muscle weakness in the early 30s. All patients had mild facial weakness and two patients complained of easy fatigue while eating and chewing. Vastus lateralis muscle biopsies revealed non-specific chronic myopathic features with a few nemaline rods. Whole body muscle MR imaging showed more fatty replacement in the distal limb and tongue muscles than in the proximal limb and axial muscles. This study showed that ADSSL1 myopathy was not rare among distal myopathy patients of Korean origin, and expanded the clinical and genetic spectrum. Therefore, we suggest that the screening test of ADSSL1 gene should be considered for the diagnosis of distal myopathy. (C) 2017 Elsevier B.V. All rights reserved.
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