- Nemaline Myopathy Presenting as Adult-onset Distal Myopathy
-
Park KH, Sohn SY, Shin JY, Kim JS, Park SH, Kim JS, Sung JJ
- KMID: 2328828
- Korean J Clin Neurophysiol.
- 2016 Jun;18(1):31-33.
- doi: 10.14253/kjcn.2016.18.1.31
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Miyoshi Type Distal Myopathy
-
Lee YH, Park KJ, Lee KS, Lee L, Kim DS, Choi NC, Kwon OY, Lim BH
- KMID: 2342941
- J Korean Neurol Assoc.
- 2001 Sep;19(5):555-557.
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- A Family of Distal Myopathy with Rimmed Vacuoles
-
Moon JS, Sunwoo IN, Kim KW, Kim TS
- KMID: 1957244
- J Korean Neurol Assoc.
- 1995 Sep;13(3):665-670.
Distal myopathy with rimmed vacuoles is a rare muscle disease and, so far as we know, it has not been reported in Korea as yet. This disorder is known to... -
- CITED
-
- Close
- SHARE
-
- Close
- Pattern analysis of lower limb magnetic resonance images in Korean patients with distal myopathy
-
Park HJ, Shin HY, Kim SM, Park KD, Choi YC
- KMID: 2454728
- Ann Clin Neurophysiol.
- 2019 Jul;21(2):79-86.
- doi: 10.14253/acn.2019.21.2.79
BACKGROUND: Magnetic resonance (MR) images are useful for diagnosing myopathy. The purpose of this study was to determine the usefulness of lower-limb MR images in Korean patients with distal myopathy. METHODS:... -
- CITED
-
- Close
- SHARE
-
- Close
- Miyoshi Myopathy: A case report
-
Jeon SH, Jang H, Lee CH, Kim HC, Kim JH
- KMID: 2323216
- J Korean Acad Rehabil Med.
- 1999 Apr;23(2):425-429.
Miyoshi myopathy is a rare distal myopathy of early adult onset and autosomal recessive inheritance. Weakness usually appears between 15 and 30 years of age starting from the posterior compartment... -
- CITED
-
- Close
- SHARE
-
- Close
- Progressive Muscular Dystrophy (Report of 32 cases)
-
Kim YJ, Maing KY, Lim JK, Seong BY
- KMID: 2460651
- J Korean Orthop Assoc.
- 1979 Mar;14(1):113-118.
- doi: 10.4055/jkoa.1979.14.1.113
Progressive muscular dystrophy is a genetically determined myopathy of unknown etiology and is a primary degenerative disease of skeletal muscle fibers. The authors reviewed 32 cases of progressive muscular dystrophy... -
- CITED
-
- Close
- SHARE
-
- Close
- Distal Myopathy of Miyoshi Type: 1 Case
-
Hong SC, Kim BJ, Lee EA, Suh YL
- KMID: 2186085
- J Korean Neurol Assoc.
- 1999 Nov;17(6):916-919.
Miyoshi myopathy (MM) is a type of distal myopathy that is characterized by an early adult onset and a prominent involvement of the gastrocnemius muscles. Weakness usually appears between 15... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Diffuse Leukoencephalopathy Caused by 5-Fluorouracil Derivatives
-
Yeun SS, Jang DI, Jung KC
- KMID: 1686798
- J Korean Neurol Assoc.
- 1993 Sep;11(3):471-473.
A stomach cancer patient is reported, who presented with asterixis and dysarthria, after the administration of 5-fluorouracil derivatives, and progressed to a state of arnnesia and disorientation. At first impression... -
- CITED
-
- Close
- SHARE
-
- Close
- Autosomal Dominant Distal Muscular Dystrophy: Report of A Family
-
Park YK, Sunwoo IN, Chi JG
- KMID: 1957451
- J Korean Neurol Assoc.
- 1990 Dec;8(2):349-352.
Ihree cases in a family had progressive muscle weakness and atropy affecting distal hands at first and later involvement of proximal arms and legs. The disorder seemed to be inherited... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Nonaka Myopathy Confirmed by GNE Mutation
-
Han YS, Kim DE, Kim JM, Cho JS, Han JH, Cho EK, Ki CS, Kim JW
- KMID: 1626924
- J Korean Neurol Assoc.
- 2005 Jun;23(3):418-421.
Nonaka myopathy (NM) or distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessively inherited neuromuscular disorder characterized by early adult-onset weakness of distal muscles, rimmed vacuoles in muscle biopsy,... -
- CITED
-
- Close
- SHARE
-
- Close
- Inclusion Body Myositis Distal Myopathy?
-
Kim SM, Lee HM, Song HK, Kim SY, Kwon KH, Lee BC, Ha CW, Chi JG
- KMID: 1686782
- J Korean Neurol Assoc.
- 1993 Sep;11(3):427-433.
Inclusion body myositis (IBM) is a chronic inflammatory myopathy with characteristic rimmed vacuoles. Cytoplasmic and intranuclear filamentous inclusions in muscle speci men. The clinical features manifest male dominance with the... -
- CITED
-
- Close
- SHARE
-
- Close
- Nonaka Myopathy: A case report
-
Lee PK, Kim EJ, Ki CS, Kim JW
- KMID: 2324031
- J Korean Acad Rehabil Med.
- 2004 Jun;28(3):288-291.
Nonaka myopathy (NM) or distal myopathy with rimmed vacuoles was an autosomal recessive muscle disease with preferential involvement of the tibialis anterior and sparing quadriceps muscles in young adulthood. Patients... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy
-
Sim JE, Hong JM, Suh GI, Cho H, Park KS, Sohn EH, Choi YC
- KMID: 1980549
- J Clin Neurol.
- 2013 Oct;9(4):280-282.
- doi: 10.3988/jcn.2013.9.4.280
BACKGROUND: GNE myopathy is characterized by early-adult-onset distal myopathy sparing quadriceps caused by mutations in the GNE gene encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, an enzyme in the sialic-acid synthesis pathway. CASE REPORT:... -
- CITED
-
- Close
- SHARE
-
- Close
- Identification of a Dysferlin Gene Mutation in a Korean Case with Miyoshi Myopathy
-
Oh SH, Kim TS, Choi YC
- KMID: 1103918
- Yonsei Med J.
- 2004 Oct;45(5):927-930.
- doi: 10.3349/ymj.2004.45.5.927
Recent genetic and immunohistochemical analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF gene, which induces dysfunction of dysferlin. The author described one patient... -
- CITED
-
- Close
- SHARE
-
- Close
- Significance of Immunohistochemical Study in Patients with Muscular Dystrophy
-
Kim DS, Park KH, Nam SO, Lee CH, Park KJ
- KMID: 2343114
- J Korean Neurol Assoc.
- 2004 Dec;22(6):613-622.
BACKGROUND: For the differential diagnosis between the various subtypes of muscular dystrophy, the analysis of the protein expression pattern from the biopsied skeletal muscle tissue is essential. Authors performed the... -
- CITED
-
- Close
- SHARE
-
- Close
- Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy
-
Sim JE, Park HJ, Shin HY, Nam TS, Kim SM, Choi YC
- KMID: 1727867
- Yonsei Med J.
- 2013 May;54(3):578-582.
- doi: 10.3349/ymj.2013.54.3.578
PURPOSE: Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive neuromuscular disorder characterized by early adult-onset weakness of the distal muscles of the lower limbs. The clinical spectrum of GNE... -
- CITED
-
- Close
- SHARE
-
- Close
- Heterogeneous Characteristics of Korean Patients with Dysferlinopathy
-
Park HJ, Hong JM, Suh GI, Shin HY, Kim SM, Sunwoo IN, Suh BC, Choi YC
- KMID: 2157904
- J Korean Med Sci.
- 2012 Apr;27(4):423-429.
- doi: 10.3346/jkms.2012.27.4.423
Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed by immunohistochemistry. The mean age of... -
- CITED
-
- Close
- SHARE
-
- Close
