Distal myopathy with ADSSL1 mutations in Korean patients

Hyung Jun Park, Ha Young Shin, Sungjun Kim, Se Hoon Kim, Yunbeom Lee, Jung Hwan Lee, Ji Man Hong, Seung Min Kim, Kee Duk Park, Byung Ok Choi, Ji Hyun Lee, Young Chul Choi

Research output: Contribution to journalArticlepeer-review

12 Citations (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.

Original languageEnglish
Pages (from-to)465-472
Number of pages8
JournalNeuromuscular Disorders
Issue number5
Publication statusPublished - 2017 May

Bibliographical note

Publisher Copyright:
© 2017 Elsevier B.V.

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)


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