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The Role of Insulin Resistance in Diabetic Neuropathy in Koreans with Type 2 Diabetes Mellitus: A 6-Year Follow-Up Study
Purpose We previously reported that insulin resistance, low high-density lipoprotein (HDL) cholesterol, and glycaemic exposure Index are independently associated with peripheral neuropathy in KoreanExpand
Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy
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 distalExpand
Clinical and electromyographic features of radiation-induced lower cranial neuropathy
OBJECTIVE Lower cranial neuropathy is a rare complication of radiation therapy for head and neck cancers. Little is known about the clinical and electromyographic features of this complication. Expand
A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot‐Marie‐Tooth disease and focal segmental glomerulosclerosis
Mutations in the inverted formin‐2 (INF2) gene were recently identified in patients with autosomal dominant intermediate Charcot‐Marie‐Tooth (DI‐CMT) disease and focal segmental glomerulosclerosisExpand
Myasthenia gravis seronegative for acetylcholine receptor antibodies in South Korea: Autoantibody profiles and clinical features
Acquired myasthenia gravis (MG) is a prototype autoimmune disease of the neuromuscular junction, caused in most patients by autoantibodies to the muscle nicotinic acetylcholine receptor (AChR). ThereExpand
The expression of BAFF in the muscles of patients with dermatomyositis
A B-cell activating factor of the tumor necrosis factor (TNF) family (BAFF) plays a crucial role in B-cell survival and maturation. An elevated serum BAFF level has been linked to several autoimmuneExpand
Heterogeneous Characteristics of Korean Patients with Dysferlinopathy
Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed byExpand
Clinical and Electrophysiologic Responses to Acetylcholinesterase Inhibitors in MuSK-Antibody-Positive Myasthenia Gravis: Evidence for Cholinergic Neuromuscular Hyperactivity
Background and Purpose Patients with muscle-specific tyrosine kinase (MuSK) antibody (MuSK-Ab)-positive myasthenia gravis (MG) show distinct responses to acetylcholinesterase inhibitors (AChEIs).Expand
Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations
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 GeneExpand
A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy
BackgroundMutations in MPV17 cause the autosomal recessive disorder mitochondrial DNA depletion syndrome 6 (MTDPS6), also called Navajo neurohepatopathy (NNH). Clinical features of MTDPS6 isExpand