http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
신진홍 대한임상신경생리학회 2012 Annals of Clinical Neurophysiology Vol.14 No.2
For the last decades, molecular genetics has achieved great advances that the genes on the list of inherited muscle diseases are piling up. Those diseases of overlapping clinico-pathologic findings are now understood with discrete molecular pathogeneses. We are facing an exciting era that the long-waited gene therapy may eventually come true. Skipping of dystrophin exon 51 is on successful clinical trials, which will benefit about 13% of the children suffering from Duchenne muscular dystrophy. Exon skipping is under active investigation to expand the candidates. Hopefully it may cover majority of Duchenne muscular dystrophy mutations and some of other diseases. Adeno-associated virus is one of the most versatile tools for gene transfer. It may overcome the limitation of exon skipping. Here we review exon skipping technique of Duchenne muscular dystrophy and briefly discuss the other strategies being studied to cure inherited muscle diseases.
Genetics of Mitochondrial Myopathies
신진홍,김대성 대한의학유전학회 2013 대한의학유전학회지 Vol.10 No.1
Mitochondrion is an intracellular organelle with its own genome. Its function in cellular metabolism is indispensable that mitochondrial dysfunction gives rise to multisystemic failure. The manifestation is most prominent with tissues of high energy demand such as muscle and nerve. Mitochondrial myopathies occur not only by mutations in mitochondrial genome, but also by defects in nuclear genes or secondarily by toxic insult on mitochondrial replication. Currently curative treatment modality does not exist and symptomatic treatment remains mainstay. Administration of L-arginine holds great promise according to the recent reports. Advances in mitochondrial RNA import might enable a new therapeutic strategy.
Focal eosinophilic myositis presenting with leg pain and tenderness
신진홍,김대성 대한임상신경생리학회 2020 Annals of Clinical Neurophysiology Vol.22 No.2
Focal eosinophilic myositis (FEM) is the most limited form of eosinophilic myositis that commonly affects the muscles of the lower leg without systemic manifestations. We report a patient with FEM who was studied by magnetic resonance imaging and muscle biopsy with a review of the literature.
박영은,신진홍,김대성 대한신경과학회 2021 대한신경과학회지 Vol.39 No.4
Muscle pathology can give much information to reach the diagnosis of neuromuscular disorders. Major pathological changes occurred in skeletal muscles include muscle fiber atrophy/hypertrophy, necrosis/regeneration, inflammation, myofibrillar disorganization, abnormal inclusions, and disruptions in cellular organelles. Physicians should be able to understand what each of these findings indicates. However, these are not always specific to a certain disease, and instead most of them are commonly found in many of muscle diseases. Thus, muscle pathological findings should be carefully interpreted under the given clinical settings.
진단되지 않은 근육병 환자를 대상으로 시행한 늦은 발병 폼페병의 다기관 표적집단선별검사
이정환,신진홍,김대성,김광국,김병준,석진명,성정준,남태승,박영은,박진성,김숙자,최영철 대한신경과학회 2021 대한신경과학회지 Vol.39 No.2
Background: Pompe disease is a rare autosomal recessive disorder caused by the deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Early diagnosis and initiation of treatment with enzyme replacement therapy have remarkable effects on the prognosis of Pompe disease. We performed the expanded screening for late onset Pompe disease (LOPD) at eight centers in Korea. Methods: From September 1, 2015, GAA activity were measured from both dried blood spot (DBS) and mixed leukocyte for 188 available patients. For 12 patients with low GAA activity, we performed Sanger sequencing of GAA gene. Results: Among 188 patients, 115 were males. The mean of age of symptom onset and diagnosis were 34.3 years and 41.6 years. Among 12 patients with decreased GAA activity, two patients were confirmed to have LOPD with genetic test (c.1316T>A [p.M439K] + c.2015G>A [p.R672Q], c.1857C>G [p.S619R] + c.546G>C [leaky splicing]). Other two patients had homozygous G576S and E689K mutation, known as pseudodeficiency allele. Conclusions: This study is expanded study of LOPD screening for targeted Korean population. We found two patients with LOPD, and the detection rate of LOPD is 1.06%. With application of modified GAA cutoff value (0.4), which was previously reported, there were no false positive results of GAA activity test using DBS. Therefore, it could be an appropriate screening test for LOPD in especially East-Asian population, in which pseudodeficiency allele is frequent.