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Clinical heterogeneity in Korean patients with nemaline myopathy

 Ji-Man Hong  ;  Seung-Min Kim  ;  Il-Nam Sunwoo  ;  Se-Hoon Kim  ;  Tai-Seung Kim  ;  Dong-Suk Shim  ;  Young-Chul Choi 
 YONSEI MEDICAL JOURNAL, Vol.51(2) : 225-230, 2010 
Journal Title
Issue Date
Adolescent ; Adult ; Asian Continental Ancestry Group ; Female ; Humans ; Male ; Microscopy ; Myopathies, Nemaline/pathology* ; Myopathies, Nemaline/physiopathology ; Reflex, Abnormal/physiology ; Young Adult
Congenital structural myopathies ; heterogeneity ; nemaline myopathy
PURPOSE: Nemaline myopathy (NM) is a clinical heterogeneous congenital myopathy characterized by the presence of subsarcolemmal or cytoplasmic rod-like structures that call nemaline bodies in the muscle fibers. The purpose of this study was to investigate the clinical diversity and pathological features of Korean patients with NM. MATERIALS AND METHODS: Eight patients underwent analyses of clinical manifestations by a structured protocol. Diagnoses were established by a muscle biopsy. RESULTS: Two patients had the typical congenital type, which exhibited neonatal hypotonia and delayed motor milestone, and five patients had the childhood onset type, which exhibited mild gait disturbance as a first symptom. One patient had the adult onset type, which showed acute respiratory failure. Limb weakness was proximal-dominant occurred in six patients. Hyporeflexia was observed in most patients. Elongated faces and high arched palates and feet were also observed. On light microscopy, the nemaline bodies were observed in type 1 and 2 fibers. All patients showed type 1 predominance and atrophy. In the two cases in which ultrastructural studies were performed, typical nemaline rods and disorganized myofibrillar apparatus were detected. CONCLUSION: In conclusion, the eight Korean patients in this study with NM shared common clinical expressions such as proximal limb weakness, reduced deep tendon reflex, and dysmorphic features. This study, however, showed that clinical heterogeneity ranged from typical congenital, mildly affected childhood to the adult onset form with acute respiratory failure. The pathological findings in this study were in accordance with those of other previous reports.
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1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Kim, Se Hoon(김세훈) ORCID logo https://orcid.org/0000-0001-7516-7372
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Kim, Tai Seung(김태승)
Sunwoo, Il Nam(선우일남)
Shim, Dong Suk(심동석)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
Hong, Ji Man(홍지만) ORCID logo https://orcid.org/0000-0002-0696-8448
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