Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.

Abstract:

:Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF gene have been found from all over the world, there is only one report of genetically confirmed case of MM in Korea. Recently, we encountered three unrelated Korean patients with MM and two of them have previously been considered as having a type of inflammatory myopathy. The clinical and laboratory evaluation showed typical features of muscle involvement in MM in all patients but one patient initially had moderate proximal muscle involvement and another showed incomplete quadriparesis with rapid progression. Direct sequencing analysis of the DYSF gene revealed that each patient had compound heterozygous mutations (Gln832X and Trp992Arg, Gln832X and Trp999Cys, and Lys1103X and Ile1401HisfsX8, respectively) among which three were novel. Although MM has been thought to be quite rare in Korea, it should be considered in a differential diagnosis of patients exhibiting distal myopathy.

journal_name

J Korean Med Sci

authors

Cho HJ,Sung DH,Kim EJ,Yoon CH,Ki CS,Kim JW

doi

10.3346/jkms.2006.21.4.724

subject

Has Abstract

pub_date

2006-08-01 00:00:00

pages

724-7

issue

4

eissn

1011-8934

issn

1598-6357

pii

200608724

journal_volume

21

pub_type

杂志文章
  • Calculation of the cardiothoracic ratio from portable anteroposterior chest radiography.

    abstract::Cardiothoracic ratio (CTR), the ratio of cardiac diameter (CD) to thoracic diameter (TD), is a useful screening method to detect cardiomegaly, but is reliable only on posteroanterior chest radiography (chest PA). We performed this cross-sectional 3-phase study to establish reliable CTR from anteroposterior chest radio...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2011.26.11.1446

    authors: Chon SB,Oh WS,Cho JH,Kim SS,Lee SJ

    更新日期:2011-11-01 00:00:00

  • Renocolic fistula secondary to a perinephric abscess: a late complication of a forgotten double J stent.

    abstract::Late complications of ureteral stents are frequent, and longer indwelling times are associated with an increased frequency of complications. Although there are reports of various complications of long-term indwelling ureteral stents, a renocolic fistula secondary to a perinephric abscess resulting from an indwelling u...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2009.24.5.960

    authors: Lee SW,Kim JH

    更新日期:2009-10-01 00:00:00

  • Effects of One-dose Varicella Vaccination on Disease Severity in Children during Outbreaks in Seoul, Korea.

    abstract:Background:In Korea, the incidence of varicella has increased despite the introduction of a universal one-dose vaccination for children aged 12-15 months in 2005. A previous study demonstrated that the vaccine effectiveness was insufficient to prevent against varicella. We assessed the effect of the varicella vaccinati...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2019.34.e83

    authors: Lee YH,Choe YJ,Cho SI,Park H,Bang JH,Lee JK

    更新日期:2019-03-07 00:00:00

  • Comparison of Baseline Characteristics between Community-based and Hospital-based Suicidal Ideators and Its Implications for Tailoring Strategies for Suicide Prevention: Korean Cohort for the Model Predicting a Suicide and Suicide-related Behavior.

    abstract::In this cross-sectional study, we aimed to identify distinguishing factors between populations with suicidal ideation recruited from hospitals and communities to make an efficient allocation of limited anti-suicidal resources according to group differences. We analyzed the baseline data from 120 individuals in a commu...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2017.32.9.1522

    authors: Park CHK,Lee JW,Lee SY,Moon J,Shim SH,Paik JW,Kim SG,Cho SJ,Kim MH,Kim S,Park JH,You S,Jeon HJ,Ahn YM

    更新日期:2017-09-01 00:00:00

  • Seasonal Variations and Associated Factors of Gout Attacks: a Prospective Multicenter Study in Korea.

    abstract:BACKGROUND:We purposed to evaluate the seasonality and associated factors of the incidence of gout attacks in Korea. METHODS:We prospectively enrolled patients with gout attacks who were treated at nine rheumatology clinics between January 2015 and July 2018 and followed them for 1-year. Demographic data, clinical and...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章,多中心研究

    doi:10.3346/jkms.2020.35.e133

    authors: Choi HJ,Moon KW,Kim HO,Lee YA,Hong SJ,Jung JY,Kim HA,Suh CH,Ha YJ,Kim IJ,Lee J,Park EK,Lee SG,Seo MR,Baek HJ,Choi ST,Song JS

    更新日期:2020-05-25 00:00:00

  • Inhibition of rac1 reduces PDGF-induced reactive oxygen species and proliferation in vascular smooth muscle cells.

    abstract::In vascular smooth muscle cells, reactive oxygen species (ROS) were known to mediate platelet-derived growth factor (PDGF)-induced cell proliferation and NADH/NADPH oxidase is the major source of ROS. NADH/NADPH oxidase is controlled by rac1 in non-phagocytic cells. In this study, we examined whether the inhibition of...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2001.16.6.712

    authors: Kong G,Lee S,Kim KS

    更新日期:2001-12-01 00:00:00

  • Clinical presentations and neurodevelopmental outcomes of perinatal stroke in preterm and term neonates: a case series.

    abstract::Perinatal stroke in neonates can lead to disability in later life. However, its etiology and prognosis are poorly understood. The aim of this study was to describe clinical presentations and neurodevelopmental outcomes of our case series of perinatal stroke in Korea. Thirteen term and preterm neonates who were diagnos...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2010.25.6.888

    authors: Lee HJ,Lim BC,Hwang H,Hong JS,Kim EK,Kim HS,Kim BI,Choi JH,Choi CW

    更新日期:2010-06-01 00:00:00

  • GSTM1 and GSTP1 polymorphisms as potential factors for modifying the effect of smoking on inflammatory response.

    abstract::Inflammation has been known to be an important underlying condition for development of various diseases including cancer. The aims of this study were to investigate whether tobacco smoke exposure increases the level of inflammation biomarkers and the GSTM1 and GSTP1 gene polymorphisms are associated with inflammatory ...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2006.21.6.1021

    authors: Kim JH,Park SG,Lee KH,Choi JH,Ha EH,Myung SK,Hong YC

    更新日期:2006-12-01 00:00:00

  • Chronic Intussusception Caused by Diffuse Large B-Cell Lymphoma in a 6-Year-Old Girl Presenting with Abdominal Pain and Constipation for 2 Months.

    abstract::The classical triad of abdominal pain, vomiting, and bloody stool is absent in chronic intussusception for more than 2 weeks. Here, we report a 6-year-old female with recurrent abdominal pain for 2 months. Ultrasonography of the abdomen revealed an ileocolic-type intussusception. The lesion accompanying the tight fibr...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2016.31.2.321

    authors: Choi SH,Han SA,Won KY

    更新日期:2016-02-01 00:00:00

  • National Trends in Surgery for Rotator Cuff Disease in Korea.

    abstract::The objective of this study was to investigate the national trends in rotator cuff surgery in Korea and analyze hospital type-specific trends. We analyzed a nationwide database acquired from the Korean Health Insurance Review and Assessment Service (HIRA) from 2007 to 2015. International Classification of Diseases, 10...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2017.32.2.357

    authors: Jo YH,Lee KH,Kim SJ,Kim J,Lee BG

    更新日期:2017-02-01 00:00:00

  • Autoimmune oophoritis--a case report.

    abstract::A case is described of an autoimmune oophoritis that was diagnosed unexpectedly after a hysterectomy and bilateral salpingo-oophorectomy had been performed on the suspicion of ovarian cysts. The patient was a 43-year-old multiparous woman who presented with vaginal bleeding and lower abdominal pain which she had had f...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.1992.7.3.284

    authors: Suh YL

    更新日期:1992-09-01 00:00:00

  • A nationwide survey of lymphangioleiomyomatosis in Korea: recent increase in newly diagnosed patients.

    abstract::In 2007, the Korean Interstitial Lung Disease Society had collected clinical data of patients who have diagnosed as Lymphangioleiomyomatosis (LAM) since 1990 through nationwide survey, which showed that LAM patients had increased sharply after 2004. The present study was performed to show the clinical features of Kore...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2010.25.8.1182

    authors: Park HY,Nam HS,Chung MP,Jeong SH,Kim YJ,Cha SI,Kim YW,Park JS,Uh ST,Park CS,Park MS,Moon JA,Jung KS,Jegal YJ,Kim DS,Song JW,Yum HK,Park YB

    更新日期:2010-08-01 00:00:00

  • Acute kidney injury after using contrast during cardiac catheterization in children with heart disease.

    abstract::Acute kidney injury (AKI) is closely associated with the mortality of hospitalized patients and long-term development of chronic kidney disease, especially in children. The purpose of our study was to assess the evidence of contrast-induced AKI after cardiac catheterization in children with heart disease and evaluate ...

    journal_title:Journal of Korean medical science

    pub_type: 临床试验,杂志文章

    doi:10.3346/jkms.2014.29.8.1102

    authors: Hwang YJ,Hyun MC,Choi BS,Chun SY,Cho MH

    更新日期:2014-08-01 00:00:00

  • Chronic idiopathic myelofibrosis presenting as cauda equina compression due to extramedullary hematopoiesis: a case report.

    abstract::Extramedullary hematopoiesis (EMH) is occasionally reported in idiopathic myelofibrosis and is generally found in the liver, spleen, and lymph nodes several years after diagnosis. Myelofibrosis presenting as spinal cord compression, resulting from EMH tissue is very rare. A 39-yr-old man presented with back pain, subj...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2007.22.6.1090

    authors: Goh DH,Lee SH,Cho DC,Park SH,Hwang JH,Sung JK

    更新日期:2007-12-01 00:00:00

  • Cytomegalovirus ventriculoencephalitis after unrelated double cord blood stem cell transplantation with an alemtuzumab-containing preparative regimen for Philadelphia-positive acute lymphoblastic leukemia.

    abstract::Despite the prophylaxis and preemptive strategies using potent antiviral agents, cytomegalovirus (CMV) remains a major infectious cause of morbidity and mortality in allogeneic stem cell transplantation (SCT) recipients. Delayed immune reconstitution after SCT, such as cord blood and T-cell depleted SCT with the use o...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2010.25.4.630

    authors: Lee S,Kim SH,Choi SM,Lee DG,Kim SY,Lee JW,Min WS,Shin WS,Kim CC

    更新日期:2010-04-01 00:00:00

  • Disability Weights Measurement for 228 Causes of Disease in the Korean Burden of Disease Study 2012.

    abstract::Disability weight for each disease plays a key role in combining years lived with disability and years of life lost in disability adjusted life year. For the Korean Burden of Disease 2012 study, we have conducted a re-estimation of disability weights for causes of disease by adapting the methodology of a recent Global...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2016.31.S2.S129

    authors: Ock M,Lee JY,Oh IH,Park H,Yoon SJ,Jo MW

    更新日期:2016-11-01 00:00:00

  • Blood Pressure Curve for Children Less than 10 Years of Age: Findings from the Ewha Birth and Growth Cohort Study.

    abstract:BACKGROUND:Routine blood pressure (BP) measurement is recommended to begin at 3 years of age, but there are no national BP reference values for Korean children less than 7 years of age. Therefore, we developed sex-, age-, and height-specific BP reference values for non-overweight children aged 3-9 years. METHODS:We an...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2020.35.e91

    authors: Lee HA,Park B,Park EA,Cho SJ,Kim HS,Choi EJ,Kim NE,Park H

    更新日期:2020-03-30 00:00:00

  • Prostate size correlates with fasting blood glucose in non-diabetic benign prostatic hyperplasia patients with normal testosterone levels.

    abstract::We evaluated the correlations between BMI, fasting glucose, insulin, testosterone level, insulin resistance, and prostate size in non-diabetic benign prostatic hyperplasia (BPH) patients with normal testosterone levels. Data from 212 non-diabetic BPH patients with normal testosterone levels, who underwent transurethra...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2011.26.9.1214

    authors: Kim WT,Yun SJ,Choi YD,Kim GY,Moon SK,Choi YH,Kim IY,Kim WJ

    更新日期:2011-09-01 00:00:00

  • Severe Injuries from Low-height Falls in the Elderly Population.

    abstract:Background:Falls from low-height can cause severe injuries in the elderly population. This study was conducted to determine characteristics of injuries from low-height falls. Methods:We retrospectively review surveillance data on injured patients who presented to six emergency departments from January 2011 to December...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2018.33.e221

    authors: Lee H,Kim SH,Lee SC,Kim S,Cho GC,Kim MJ,Lee JS,Han C

    更新日期:2018-07-05 00:00:00

  • Xanthogranulomatous pancreatitis presents as a solid tumor mass: a case report.

    abstract::Xanthogranulomatous inflammation (XGI) is a rare, idiopathic process in which lipid-laden histiocytes are deposited at various locations in the body. Although XGI has been reported to occur in various organs such as the gallbladder, kidney, bone, stomach, colon, appendix, lymph nodes, urachus, and urinary bladder and ...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2011.26.4.583

    authors: Kim HS,Joo M,Chang SH,Song HY,Song TJ,Seo JW,Kim CN

    更新日期:2011-04-01 00:00:00

  • Clinical implications of immunohistochemically demonstrated lymph node micrometastasis in resectable pancreatic cancer.

    abstract::The purpose of this study was to determine the clinical significance of nodal micrometastasis detected by immunohistochemistry in patients that had undergone curative surgery for pancreatic cancer. Between 2005 and 2006, a total of 208 lymph nodes from 48 consecutive patients with pancreatic cancer that had undergone ...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2011.26.7.881

    authors: Lee SE,Jang JY,Kim MA,Kim SW

    更新日期:2011-07-01 00:00:00

  • Percutaneous Retrieval of Embolized Amplatzer Septal Occluder after Treatment of Double Atrial Septal Defect: A Case Report.

    abstract::Embolization of the occlusion device after percutaneous closure of atrial septal defect (ASD) is a potential disastrous complication. The usual site of embolization is the right side of the heart including pulmonary artery, but the device embolization to the extracardiac aorta is extremely rare. Here, we report a succ...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2015.30.9.1361

    authors: Cho JY,Kim KH,Yoon HJ,Seon HJ,Ahn Y,Jeong MH,Cho JG,Park JC

    更新日期:2015-09-01 00:00:00

  • Tenosynovial giant cell tumor of finger, localized type: a case report.

    abstract::The authors report a typical case of tenosynovial giant cell tumor of the right middle finger of a 31-year-old man. Histologically, this tumor is characterized by a discrete proliferation of rounded synovial-like cells accompanied by a variable number of multinucleated giant cells, inflammatory cells, and xanthoma cel...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.1999.14.6.682

    authors: Hwang K,Lee DK,Lee SI

    更新日期:1999-12-01 00:00:00

  • Influencing Factors of Transportation Costs Regarding Healthcare Service Utilization in Korea.

    abstract:BACKGROUND:Transportation costs can be a barrier to healthcare services, especially for low-income, disabled, elderly, and geographically isolated populations. This study aimed to estimate the transportation costs of healthcare service utilization and related influencing factors in Korea in 2016. METHODS:Transportatio...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2020.35.e290

    authors: Jang SY,Seon JY,Oh IH

    更新日期:2020-09-07 00:00:00

  • Regulation of inhibitors of differentiation family proteins by thyroid-stimulating hormone in FRTL-5 thyroid cells.

    abstract::Members of the inhibitors of differentiation (Id) family of helix-loop-helix (HLH) proteins are known to play important roles in the proliferation and differentiation of many cell types. Thyroid-stimulating hormone (TSH) regulates proliferation and differentiation by activating TSH receptor (TSHR) in thyrocytes. In th...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2008.23.2.262

    authors: Jo YS,Hwang ES,Lee JH,Lee Y,Kim SY,Choi YS,Bai YS,Hong JH,Kim YJ,Lee IS,Rha SY,Ro HK,Shong M

    更新日期:2008-04-01 00:00:00

  • Subacute course of common iliac arterial laceration in lumbar disc surgery.

    abstract::Vascular injuries in lumbar disc surgery are serious complications which may be overlooked due to a broad range of clinical manifestations. It is important to be aware of the perioperative implications of this rare occurrence to lower mortality risk. A 20-yr-old man with a right L4-5 lumbar disc protrusion was operate...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2013.28.1.167

    authors: Choi YS,Chung YS,Sim KB

    更新日期:2013-01-01 00:00:00

  • Validity of the Korean Version of the Face, Legs, Activity, Cry, and Consolability Scale for Assessment of Pain in Dementia Patients.

    abstract::Pain is often associated with a more rapid progression of cognitive and functional decline, and behavioral disturbance in dementia. Therefore, it is essential to accurately assesses pain for proper intervention in patients with dementia. The Face, Legs, Activity, Cry, and Consolability (FLACC) scale is an excellent be...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2017.32.11.1852

    authors: Moon Y,Kim YS,Lee J,Han SH

    更新日期:2017-11-01 00:00:00

  • Randomized Comparison of Actual and Ideal Body Weight for Size Selection of the Laryngeal Mask Airway Classic in Overweight Patients.

    abstract::Size selection of the laryngeal mask airway (LMA) Classic based on actual body weight remains a common practice. However, ideal body weight might allow for a better size selection in obese patients. The purpose of our study was to compare the utility of ideal body weight and actual body weight when choosing the approp...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章,随机对照试验

    doi:10.3346/jkms.2015.30.8.1197

    authors: Kim MS,Lee JS,Nam SB,Kang HJ,Kim JE

    更新日期:2015-08-01 00:00:00

  • Complete Recovery of Oxysterol 7α-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review.

    abstract::Oxysterol 7α-hydroxylase deficiency is a very rare liver disease categorized as inborn errors of bile acid synthesis, caused by CYP7B1 mutations. As it may cause rapid progression to end-stage liver disease even in early infancy, a high index of suspicion is required to prevent fatal outcomes. We describe the case of ...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2018.33.e324

    authors: Hong J,Oh SH,Yoo HW,Nittono H,Kimura A,Kim KM

    更新日期:2018-11-22 00:00:00

  • Neural changes associated with emotion processing in children experiencing peer rejection: a functional MRI study.

    abstract::This study was performed to investigate differences between children who did and did not experience peer rejection in psychological state through surveys and in emotion processing during an interpersonal stress challenge task to reflect naturalistic interpersonal face-to-face relationships. A total of 20 right-handed ...

    journal_title:Journal of Korean medical science

    pub_type: 杂志文章

    doi:10.3346/jkms.2014.29.9.1293

    authors: Lee HS,Lee JE,Lee KU,Kim YH

    更新日期:2014-09-01 00:00:00