Sarcolemma-Specific Collagen Ⅵ Deficiency is Predominant in Chinese Patients with Ullrich Congenital

来源 :The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie | 被引量 : 0次 | 上传用户：cpts

【摘要】

：

【作者】

：

Wenhua Zhu Jun Lu Chongbo Zhao Jianying Xi Jie Lin Ying Wang Jiahong Lu

【机构】

：

Department of Neurology, Huashan Hospital, Fudan University

【出处】

：

The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie

【发表日期】

：

2013年7期

下载到本地 , 更方便阅读

下载此文赞助VIP

声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架

论文部分内容阅读

Background The collagen Ⅵ-related myopathy known as Ullrich congenital muscular dystrophy(UCMD) is an early-onset disease that combines substantial muscle weakness with striking distal laxity and progressive contractures.This disease entity is rarely reported in Chinese patients.Methods We report the clinical features and pathological findings of four unrelated UCMD patients diagnosed in our center during 2007-2012.

其他文献

Circulating Fibrocytes and Matrix Metalloproteinase-9(MMP-9)Are Indicators of Poor Response to Corti

Background Duchenne muscular dystrophy (DMD) is the most common genetic muscle disease that is caused by a defective dystrophin gene on the X chromosome and is characterized by progressive skeletal an

会议

Medical Condition of Inpatients with Muscular Dystrophy in JAPAN

Background Twenty-seven hospitals in Japan specialize in treatment of muscular dystrophy patients, including inpatient care.Since 1999, we have conducted a survey of inpatients at these 27institutions

会议

Dietary Phosphorus Intake Exacerbates Muscle Pathology and Leads to Abnormal Phosphate Metabolism in

Among animal models of Duchenne muscular dystrophy, progressive muscle degeneration,ectopic calcification in skeletal muscle, and high serum phosphate (Pi) levels are dystrophic phenotypes in mdx mice

会议

Absence of Beta-Amyloid Deposition in the Central Nervous System of A GNE Knockout Mouse Model of Di

Introduction An established endogeneous Gne knockout mouse model of distal myopathy with rimmed vacuoles (DMRV) that expresses the human GNE D176V mutant gene was examined for beta-amyloid deposition

会议

Clinical Features of Large Korean LGMD1D Family with Novel DNAJB6 P.F100I Mutation

Objectives Limb-girdle muscular dystrophy (LGMD) is a group of rare inherited disease characterized by progressive weakness of skeletal muscle starting from shoulder and hip girdles.Autosomal dominant

会议

Unfolded Protein Response and Activated Degradative Pathways Regulation in GNE Myopathy

Objective Although intracellular beta amyloid (Aβ)accumulation is known as an early upstream event in the degenerative course of UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase(GNE)myopa

会议

Analysis of Skewed X Inactivation and Clinical Characteristics in A Young Female Patient of DMD/BMD

Objective Analyze the clinical characteristics, the DMD gene variation and the pattern of X chromosome inactivation (XCI), in order to research the possible onset mechanism.Methods A female patient ag

会议

Expanding the Phenotype of Laminin Alpha 2 Chain(Merosin) Abnormalities:Case Series of A Single Chin

Background The clinical spectrum of LAMA2-related muscular dystrophy (LAMA2 MD) range from severe, early-onset congenital muscular dystrophy (CMD) to mild, later childhood-onset limb-girdle muscular d

会议

Exome Sequencing Reveals A COL6A1 Mutation in A Korean Autosomal Dominant Bethlem Myopathy Family

Background and Purpose Muscular dystrophy is a heterogeneous disorder characterized by muscle weakness and wasting.A step-by-step approach is conventionally used for diagnosis.Recent advances of next-

会议

Acute Muscular Sarcocystosis Due to Sarcocystis Nesbitti Infection with Distinctive Facial Swelling

Sarcocystis species are intracellular protozoan parasites with complex life cycles that include an asexual sarcocyst stage in skeletal muscles.Although human muscular sarcocystosis is prevalent in Sou

会议

Sarcolemma-Specific Collagen Ⅵ Deficiency is Predominant in Chinese Patients with Ullrich Congenital

与本文相关的学术论文