DYSTROPHY

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Prevalence and associated factors of myocardial involvement in Duchenne muscular dystrophy patients in the first decade of life
《Chinese Medical Journal》2023年第9期1132-1134,共3页Rong Xu Huayan Xu Kun Zhang Hong Xu Hui Liu Hang Fu Linjun Xie Ke Xu Chuan Fu Xuesheng Li Xiaoyue Zhou Rajiv Ananthakrishna Joseph BSelvanayagam Li Yu Xiaotang Cai Yingkun Guo 
Clinical research funding of Chinese society of cardiovascular disease(CSC)of 2019(HFCSC2019B01);National Natural Science Foundation of China(82071874,81971586,81901712,81771887,and 81771897);Sichuan Science and Technology Program(2020YFS0050,2020YJ0029,2017TD0005,21ZDYF1967);Fundamental Research Funds for the Central Universities(SCU2020D4132)
To the Editor:Duchenne muscular dystrophy(DMD)is a rare X-linked inherited disorder caused by dystrophin deficiency,which results in sarcolemmal fragility and degeneration of skeletal and cardiac myocytes.[1]Cardiac i...
关键词：INVOLVEMENT PATIENTS DYSTROPHY 
Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
《Chinese Medical Journal》2022年第12期1503-1505,共3页Yunqing Ren Jipeng Liu Dianyi Yao Huixia Hua Xiaoxuan Guo Huatuo Dai Nan Dang Yan Huang Dianhe Yu 
This work was supported by a grant from the National Natural Science Foundation of China(No.81872520).
To the Editor:Hypotrichosis with juvenile macular dystrophy(HJMD,OMIM:601553)is a rare autosomal recessive disorder characterized by short and sparse hair,progressive macular degeneration,decreased visual acuity,andev...
关键词：visual DYSTROPHY COMPOUND 
A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2
《Chinese Medical Journal》2021年第22期2753-2755,共3页Liang-Liang Qiu Xiao-Dan Lin Guo-Rong Xu Li-Li Wang Zhi-Xian Ye Feng Lin Hai-Zhu Chen Min-Ting Lin Nai-Qing Cai Ming Jin Liu-Qing Xu Wei Hu Ning Wang Zhi-Qiang Wang 
the National Natural Science Foundation of China(Nos.81671237,81974193).
To the Editor:Facioscapulohumeral muscular dystrophy type 2(FSHD2)is an epigenetic myopathy caused by variants in genes encoding chromatin regulators,such as SMCHD1:these variants lead to derepression of the D4Z4-enco...
关键词：DYSTROPHY MUSCULAR YOUNGER 
Dysferlinopathy in a cohort of Chinese patients:clinical features,mutation spectrum,and imaging findings被引量：1
《Chinese Medical Journal》2021年第5期622-624,共3页Qi-Fu Guo Zhi-Xian Ye Liang-Liang Qiu Xin Lin Jia-He Lai Min-Ting Lin Zhi-Qiang Wang Ning Wang Feng Lin 
This study was supported by grants from the National Natural Science Foundation of China(No.81701242);the Joint Fund for Program of Science Innovation of Fujian Province,China(No.2018Y9079);the National Natural Science Foundation of Fujian Province,China(No.2019J05079).
To the Editor:Mutations in the dysferlin(DYSF)gene lead to dysferlinopathy,which is referred to as a group of muscular dystrophies with autosomal recessive inheri-tance.Dysferlinopathy includes Miyoshi myopathy(MM),li...
关键词：PATIENTS MUSCULAR DYSTROPHY 
A ＂Triple Trouble＂ Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy
《Chinese Medical Journal》2018年第18期2164-2171,共8页Xiao-Dan Lin Jun-Jie He Feng Lin Hai-Zhu Chen Liu-Qing Xu Wei Hu Nai-Qing Cai Min-Ting Lin Ning Wang Zhi-Qiang Wang Guo-Rong Xu 
This work was supported by grants from National Natural Science Foundation of China （No. 81671237 and No. U1505222）, Joint Fund for Program of Science innovation of Fujian Province, China （No. 2016Y9010）, and National Natural Science Foundation of Fujian Province, China （No. 2017J01196）.
Background： Facioscapulohumeral muscular dystrophy （FSHD） is characterized by asymmetric muscular deficit of facial, shoulder-girdle muscles, and descending to lower limb muscles, but it exists in several extramusc...
关键词：Facioscapulohumeral Muscular Dystrophy Myoclonic Epilepsy Overlapping Syndromes Peripheral Neuropathy TripleTrouble 
Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China被引量：6
《Chinese Medical Journal》2018年第7期770-775,共6页Hui-Hui Zhao Xue-Ping Sun Ming-Chao Shi Yong-Xiang Yi Hong Cheng Xing-Xia Wang Qing-Cheng Xu Hong-Ming Ma Hao-Quan Wu Qing-Wen Jin Qi Niu 
This study was supported by grants from the National Natural Science Foundation of China （No. 81671117）, the Jiangsu Province Natural Science Foundation （No. BK20141439）, and A Project Funded by the Priority Academic Program Development of Jiangsu Higher Education Institutions （No. JXC 10231802）.
Background： Duchenne muscular dystrophy （DMD） and Becker muscular dystrophy （BMD） are common X-linked recessive neuromuscular disorders caused by mutations in dystrophin gene. Multiplex polymerase chain reaction ...
关键词：Becker Muscular Dystrophy Duchenne Muscular Dystrophy DYSTROPHIN Multiplex Ligation-dependent Probe Amplification Multiplex Polymerase Chain Reaction Prenatal Diagnosis 
Investigation of molecular diagnosis in Chinese patients with myotonicdystrophy type 1
《Chinese Medical Journal》2014年第6期1084-1088,共5页
This work was supported by a grant of the National Natural Science Foundation of China （No. 81171185）.
Background Myotonic dystrophy type 1(DM1) is an autosomal dominant multisystem disease caused by abnormal expansion of cytosine-thymine-guanine(CTG) repeats in the myotonic dystrophy protein kinase gene. The clinical ...
关键词：myotonic DYSTROPHY POLYMERASE CHAIN reaction blotting  SOUTHERN MOLECULAR diagnosis 
Genetic susceptibility to Candida infection： a new look at an old entity被引量：1
《Chinese Medical Journal》2013年第2期378-381,共4页Davide Firinu Maria Pisanu Bruno Piras Raffaella Meleddu Maria Maddalena Lorrai Paolo Emilio Manconi Stefano R. Del Giacco 
The identification of the first molecular defect leading to Mendelian Susceptibility to Mycobacterial Disease ;MD）,1 a rare syndrome conferring predisposition to（MSMD）,1 a rare syndrome conferring predisposition to...
关键词：chronic mucocutaneous candidiasis Candida infection IMMUNODEFICIENCY autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy ＂ autoimmune polyendoerine syndrome type 1 Th l 7 
Clinical features and linkage analysis for a Chinese family with autosomal dominant central areolar choroidal dystrophy被引量：2
《Chinese Medical Journal》2009年第22期2686-2690,共5页MA Kai YANG Xiu-fen HAN Cui ZHANG Ning XU Jun LIU Shou-bin LU Hai Torkel Snellingen WANG Ning-li LIU Ning-pu 
This work was supported by grants from Beijing Natural Science Foundation （No. 7072020） and National Natural Science Foundation of China （No. 30772378）.
Background A Chinese family with autosomal dominant central areolar choroidal dystrophy （CACD） was identified. The purpose of this study was to collect the clinical findings from the family and to identify the genet...
关键词：central areolar choroidal dystrophy clinical features linkage analysis CHINESE 
Cataract extraction in eyes with Fuchs’endothelial dystrophy in China
《Chinese Medical Journal》2005年第13期1127-1130,共4页Ann Mei-Chi Chiu 
It is a common belief that Fuchs' endothelial dystrophy predominantly affectsCaucasians but rarely Asians. However, in one Japanese study, primary corneal guttae (first stageof Fuchs ' dystrophy) were found in four of...
关键词：fuchs' endothelial dystrophy cataract extraction PHACOEMULSIFICATION 
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