title: Distal myopathy with ADSSL1 mutations in Korean patients.
abstract: 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.
authors.affiliation: Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Republic of Korea; Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Hyung Jun
authors.initials: HJ
authors.lastname: Park
authors.affiliation: Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Ha Young
authors.initials: HY
authors.lastname: Shin
authors.affiliation: Department of Radiology, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Sungjun
authors.initials: S
authors.lastname: Kim
authors.affiliation: Department of Pathology, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Se Hoon
authors.initials: SH
authors.lastname: Kim
authors.affiliation: Department of Medicine, Graduate School, Kyung Hee University, Seoul, Republic of Korea; Department of Clinical Pharmacology and Therapeutics, College of Medicine, Kyung Hee University, Seoul, Republic of Korea.
authors.forename: Yunbeom
authors.initials: Y
authors.lastname: Lee
authors.affiliation: Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Jung Hwan
authors.initials: JH
authors.lastname: Lee
authors.affiliation: Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Ji-Man
authors.initials: JM
authors.lastname: Hong
authors.affiliation: Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Seung Min
authors.initials: SM
authors.lastname: Kim
authors.affiliation: Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Republic of Korea.
authors.forename: Kee Duk
authors.initials: KD
authors.lastname: Park
authors.affiliation: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors.forename: Byung-Ok
authors.initials: BO
authors.lastname: Choi
authors.affiliation: Department of Clinical Pharmacology and Therapeutics, College of Medicine, Kyung Hee University, Seoul, Republic of Korea. Electronic address: hyunihyuni@khu.ac.kr.
authors.forename: Ji Hyun
authors.initials: JH
authors.lastname: Lee
authors.affiliation: Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea. Electronic address: ycchoi@yuhs.ac.
authors.forename: Young-Chul
authors.initials: YC
authors.lastname: Choi
mesh_terms: D000265:Adenylosuccinate Synthase / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D049310:Distal Myopathies / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D005500:Follow-Up Studies; D056726:Genetic Association Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000473:pathology; D009154:Mutation; D056910:Republic of Korea; D012189:Retrospective Studies; D051598:Whole Body Imaging; D055815:Young Adult
chemical_list: C503206:ADSS1 protein, human; D000265:Adenylosuccinate Synthase
keywords: ADSSL1; Diagnosis; Distal myopathy; Muscle MRI; Phenotype–genotype correlation