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Limb-Girdle Muscular Dystrophy

Kim NH, Yoon HS

The limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetically determined disorders characterized by progressive weakness and atrophy predominantly impacting the shoulder and pelvic girdles. Their classification has...
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A familial case of limb-girdle muscular dystrophy with CAV3 mutation

Lee S, Jang S, Shim Y, Kim WJ, Kim SY, Cho A, Kim H, Kim JI, Lim BC, Hwang H, Choi J, Kim KJ, Chae JH

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD...
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Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca²⁺ signaling of differentiated C2C12 myotubes

Phuong TT, An J, Park SH, Kim A, Choi HB, Kang TM

Anoctamin 5 (ANO5)/TMEM16E belongs to a member of the ANO/TMEM16 family member of anion channels. However, it is a matter of debate whether ANO5 functions as a genuine plasma membrane...
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Progression of GNE Myopathy Based on the Patient-Reported Outcome

Park YE, Kim DS, Choi YC, Shin JH

BACKGROUND AND PURPOSE: GNE myopathy is a rare progressive myopathy caused by biallelic mutations in the GNE gene, and frequently accompanied by rimmed vacuoles in muscle pathology. The initial symptom...
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Combination of extracorporeal membrane oxygenation and in-line hemofiltration for the acute hyperkalemic cardiac arrest in a patient with Duchenne muscular dystrophy following orthopedic surgery: a case report

Kim SH, Song JH, Jung KT

BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy that anesthesiologists can encounter in the operation room, and patients with DMD are susceptible to complications such as...
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An Experience of Judicial Autopsy for a Death by Muscular Dystrophy: An Autopsy Case

Kim YS, Park JH

Progressive muscular dystrophy (PMD) is a primary muscle disease characterized by progressive muscle weakness and wasting, which is inherited by an X-linked recessive pattern and occurs mainly in males. There...
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Real-time ultrasound-guided spinal anesthesia for cesarean section in patient with severe kyphoscoliosis and Duchenne's muscular dystrophy: A case report

Kim H, Shin SI

Most elective cesarean sections are conducted under spinal anesthesia. Regional anesthesia has become the preferred technique, because general anesthesia is associated with a greater risk of maternal morbidity and mortality....
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A Family of Bethlem Myopathy Caused by a Heterozygous COL6A1 Mutation

Park YE, Son HJ, Lee CH, Shin JH, Kim DS

Collagen-VI-related myopathies are caused by mutations in the COL6A1, COL6A2, and COL6A3 and are known to have a wide phenotypic spectrum, including Bethlem myopathy, Ullrich congenital muscular dystrophy, intermediate phenotype,...
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Novel recessive mutations of COL6A1 identified in the early severe phenotype of ullrich congenital muscular dystrophy

Park YE, Shin JH, Kim HS, Kim DS

Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in one of three genes encoding collagen VI. Although UCMD usually shows an early onset, progressive weakness, contractures and hyperlaxity of...
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Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations

Kim K, Park HJ, Lee JH, Hong J, Ahn SW, Choi YC

Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. Autosomal dominant LGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee...
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Partnership Between Families of Children with Muscular Dystrophy and Health-care Professionals: From Parents' Perspective

Yang BH, Chung CY, Li YS

PURPOSE: At present, there is still controversy between parents of children with muscular dystrophy (MD) and health-care professionals on care issues. Partnerships can connect the affected children and their families...
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Acute kidney injury in pediatric patients with rhabdomyolysis

Lim YS, Cho H, Lee ST, Lee Y

PURPOSE: This study aimed to evaluate the clinical findings in pediatric rhabdomyolysis and the predictive factors for acute kidney injury (AKI) in Korean children. METHODS: Medical records of 39 Korean children,...
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Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy

Kim D, Kim YM, Seo GH, Kim GH, Yoo HW, Yum MS, Ko TS, Lee BH

Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are X-linked neuromuscular disorders characterized by progressive muscle weakness and severe skeletal muscle degeneration. BMD is a milder form with a...
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Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture

Lee Y, Lee JH, Park HJ, Choi YC

BACKGROUND AND PURPOSE: The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later...
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Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea

Lee JH, Shin HY, Park HJ, Kim SH, Kim SM, Choi YC

BACKGROUND AND PURPOSE: Mutations in collagen VI-related genes (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). These were previously believed to be separate disease...
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Follistatin N terminus differentially regulates muscle size and fat in vivo

Zheng H, Qiao C, Tang R, Li J, Bulaklak K, Huang Z, Zhao C, Dai Y, Li J, Xiao X

Delivery of follistatin (FST) represents a promising strategy for both muscular dystrophies and diabetes, as FST is a robust antagonist of myostatin and activin, which are critical regulators of skeletal...
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Possible local anesthetic resistance in Emery–Dreifuss muscular dystrophy during regional anesthesia

Kim AJ, Halaszynski TM, Oliver LA

No abstract available.
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Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy

Kim MW, Jang DH, Kang J, Lee S, Joo SY, Jang JH, Cho EH, Choi YC, Lee JH

No abstract available.
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The evolution of electrocardiographic changes in patients with Duchenne muscular dystrophies

Yoo WH, Cho MJ, Chun P, Kim KH, Lee JS, Shin YB

PURPOSE: Myocardial dysfunction and dysrhythmias are inevitable consequences of Duchenne muscular dystrophy. We aimed to evaluate specific trends of electrocardiographic changes that reflect the progress of cardiomyopathy in patients with...
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Merosin-Deficient Congenital Muscular Dystrophy with Polymicrogyria and Subcortical Heterotopia: A Case Report

Han YM, Lee NR, Bae MH, Park KH, Shin JH, Kim DS, Byun SY

This paper reports the brain magnetic resonance imaging (MRI) findings of a case of merosin-deficient congenital muscular dystrophy (MDCMD) in a neonate and discusses the spectrum of brain involvement in...
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