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Total 240 results found since Jan 2013.

Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients
AbstractCentronuclear myopathies (CNMs) are a group of clinically and genetically heterogeneous muscle disorders. Here, we report a cohort of seven CNM patients with their clinical, histological, and morphological features. In addition, using the next-generation sequencing (NGS) technique (5/7 patients), we identified small indels: intronic, exonic, and missense mutations inMTM1,DNM2, andRYR1 genes. Further genetic studies revealed skewed X-chromosome inactivation in two female patients carryingMTM1 mutations. Based on the results of genetic analysis, these seven patients were classified as (1) X-linked recessive myotubula...
Source: Neurological Sciences - September 19, 2018 Category: Neurology Source Type: research

Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.
This study aimed to identify the disease-causing mutation in a three-generation Han-Chinese family with members who have been diagnosed with myopathy. A homozygous missense mutation, c.1627G>A (p.V543M) in the GNE gene co-segregates with the myopathy present in this family. A GNE myopathy diagnosis is evidenced by characteristic clinical manifestations, rimmed vacuoles in muscle biopsies and the presence of biallelic GNE mutations. This finding broadens the GNE gene mutation spectrum and extends the GNE myopathy phenotype spectrum. PMID: 30160005 [PubMed - as supplied by publisher]
Source: J Cell Mol Med - August 29, 2018 Category: Molecular Biology Authors: Wu Y, Yuan L, Guo Y, Lu A, Zheng W, Xu H, Yang Y, Hu P, Gu S, Wang B, Deng H Tags: J Cell Mol Med Source Type: research

Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China
Conclusion: Mitochondrial myopathy in children has great clinical, pathological, and genetical heterogeneity. Progressive proximal myopathy is most prevalent. Mitochondrial DNA point mutations are most common. And respiratory failure is a critical risk factor of poor prognosis.
Source: Frontiers in Neurology - September 7, 2020 Category: Neurology Source Type: research

Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center
Conclusions: We report for the first time that hereditary myopathy with early respiratory failure patient can have peripheral nerve and severe spine involvement. The mutation in Ig-like domain 16 of FLNC is associated with the limb girdle type of filaminopathy, and the mutation in Ig-like domain 18 with distal myopathy type. These findings expand the phenotypic and genotypic correlation spectrum of myofibrillar myopathy.
Source: Frontiers in Neurology - September 14, 2020 Category: Neurology Source Type: research

A case report: identification of a novel exon 1 deletion mutation in the GNE gene in a Chinese patient with GNE myopathy
We describe the case of a 32-year-old woman with GNE myopathy. The patient presented with progressive weakness of the lower-limb muscles that had spread to her legs. Her serum creatine kinase level was higher than the normal range. Mild myogenic changes were detected in the tibialis anterior muscles on electromyography, and moderate fatty infiltration was observed in various lower-limb muscles on magnetic resonance imaging. Histopathological examination of a skeletal muscle biopsy specimen revealed variation in muscle fiber size, rimmed vacuoles, and disorganized intermyofibrillar networks. DNA sequencing testing revealed ...
Source: Medicine - October 9, 2020 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Effects of SLCO1B1 and GATM gene variants on rosuvastatin-induced myopathy are unrelated to high plasma exposure of rosuvastatin and its metabolites.
In conclusion, SLCO1B1 and GATM genetic variants are potential biomarkers for predicting RST-induced myopathy, and their effects on SIM are unrelated to the high plasma exposure of RST and its metabolites. PMID: 29950617 [PubMed - as supplied by publisher]
Source: Acta Pharmacologica Sinica - June 27, 2018 Category: Drugs & Pharmacology Authors: Bai X, Zhang B, Wang P, Wang GL, Li JL, Wen DS, Long XZ, Sun HS, Liu YB, Huang M, Zhong SL Tags: Acta Pharmacol Sin Source Type: research

Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G   >  A in Hong Kong Chinese.
This article is protected by copyright. All rights reserved. PMID: 32022900 [PubMed - as supplied by publisher]
Source: Clinical Genetics - February 4, 2020 Category: Genetics & Stem Cells Authors: Lee HH, Wong S, Sheng B, Pan NK, Leung YF, Lau KD, Cheng YS, Luen-Cheung H, Richard L, Lee CN, Tsoi TH, Cheung YN, Yat-Pang Michael F, Kan NA, Chu YJ, Wing-Chi Lisa A, Yeung HJ, Siu-Hung L, Cheung CM, Tong HE, Hung LE, Chan TY, Chi Terence L, Tong TT, Ton Tags: Clin Genet Source Type: research

The KLHL40 c.1516A > C is a Chinese ‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes
ConclusionAnalysis of theKLHL40 c.1516A>C variant should be considered in prenatal diagnosis of Chinese pregnant patients with suspected congenital neuromuscular disorders or with significant family history of congenital myopathies.
Source: Molecular Genetics & Genomic Medicine - April 29, 2020 Category: Genetics & Stem Cells Authors: Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher C. H. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Tags: CLINICAL REPORT Source Type: research

A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores
CONCLUSION: Our results expanded the phenotypes of ACTN2-related myopathy and provided helpful information to clarify the molecular mechanisms.PMID:34170073 | DOI:10.1111/cns.13697
Source: CNS Neuroscience and Therapeutics - June 25, 2021 Category: Neuroscience Authors: Lei Chen Dian-Fu Chen Hai-Lin Dong Gong-Lu Liu Zhi-Ying Wu Source Type: research

Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-{alpha}-Actinin Immunostaining
Discussion SLONM is a treatable myopathy with ASCT or traditional immunotherapy, especially when combined with steroids and immunosuppressants. Anti–α-actinin immunostaining is the most reliable pathologic marker to identify rod-bearing fibers, and it should be performed routinely in adult patients with undiagnosed nonnecrotic myopathies.
Source: Neurology Neuroimmunology and Neuroinflammation - May 17, 2022 Category: Neurology Authors: Zhao, B., Dai, T., Zhao, D., Ma, X., Zhao, C., Li, L., Sun, Y., Zhang, Y., Yan, Y., Lu, J.-Q., Liu, F., Yan, C. Tags: MRI, All Immunology, Autoimmune diseases, All Clinical Neurology, Muscle disease Research Article Source Type: research

Statin-naïve anti-HMGCR antibody-mediated necrotizing myopathy in China
This study aimed to clarify the phenotypes and therapeutic responses of statin-naïve anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibody-mediated necrotizing myopathy. Anti-HMGCR antibodies were tested with ELISA methodology in the sera sample of 98 patients meeting the idiopathic inflammatory myopathy criteria and with negative anti-signal recognition particle (SRP) antibody. Twenty-one statin-naïve patients with anti-HMGCR antibody were detected (21.4%), with onset age from 6 to 67 years old. Proximal weakness and neck flexion weakness was the core neurological feature. The average maximal creatine ...
Source: Journal of Clinical Neuroscience - September 9, 2018 Category: Neuroscience Source Type: research

EP.21Bcl-2-associated athanogene-3 (BAG3) myopathy in an ethnic-Indian Malaysian patient
We report a Malaysian patient with BAG3 myopathy. The patient is an ethnic Indian girl, second of 4 siblings from non-consanguineous parents, with no family history of neuromuscular disease. She was initially noted to have toe-walking at the age of 2 years.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: K. Goh, S. Low, K. Mun, C. Tan, N. Shahrizaila, I. Nishino, K. Wong Source Type: research