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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 
 Neuromuscular Disorders, Vol.27 : 465-472, 2017 
Journal Title
 Neuromuscular Disorders 
Issue Date
Adenylosuccinate Synthase/genetics* ; Adolescent ; Adult ; Asian Continental Ancestry Group/genetics ; DNA Mutational Analysis ; Distal Myopathies/diagnostic imaging ; Distal Myopathies/genetics* ; Distal Myopathies/pathology ; Distal Myopathies/physiopathology* ; Female ; Follow-Up Studies ; Genetic Association Studies ; Humans ; Magnetic Resonance Imaging ; Male ; Muscle, Skeletal/diagnostic imaging ; Muscle, Skeletal/pathology ; Mutation* ; Republic of Korea ; Retrospective Studies ; Whole Body Imaging ; Young Adult
ADSSL1 ; Diagnosis ; Distal myopathy ; Muscle MRI ; Phenotype–genotype correlation
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.
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1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
김성준(Kim, Sungjun) ORCID logo https://orcid.org/0000-0002-7876-7901
김세훈(Kim, Se Hoon) ORCID logo https://orcid.org/0000-0001-7516-7372
김승민(Kim, Seung Min) ORCID logo https://orcid.org/0000-0002-4384-9640
신하영(Shin, Ha Young) ORCID logo https://orcid.org/0000-0002-4408-8265
이정환(Lee, Jung Hwan)
최영철(Choi, Young Chul) ORCID logo https://orcid.org/0000-0001-5525-6861
홍지만(Hong, Ji Man) ORCID logo https://orcid.org/0000-0002-0696-8448
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