Prevalence, pathological mechanisms, and genetic basis of limb-girdle muscular dystrophies: A review

被引：60

作者：

Taghizadeh, Eskandar ^{[1
,2
]}

Rezaee, Mehdi ^{[3
]}

Barreto, George E. ^{[4
,5
]}

Sahebkar, Amirhossein ^{[6
,7
,8
]}

机构：

[1] Yasuj Univ Med Sci, Cellular & Mol Res Ctr, Yasuj, Iran

[2] Mashhad Univ Med Sci, Dept Med Genet, Facul Med, Mashhad, Iran

[3] Mashhad Univ Med Sci, Sch Med, Dept Med Biotechnol, POB 91779-48564, Mashhad, Iran

[4] Pontificia Univ Javeriana, Fac Ciencias, Dept Nutr & Bioquim, Bogota, Colombia

[5] Univ Autonoma Chile, Inst Ciencias Biomed, Santiago, Chile

[6] Mashhad Univ Med Sci, Pharmaceut Technol Inst, Biotechnol Res Ctr, Mashhad, Iran

[7] Mashhad Univ Med Sci, Neurogen Inflammat Res Ctr, Mashhad, Iran

[8] Mashhad Univ Med Sci, Sch Pharm, Mashhad, Iran

来源：

JOURNAL OF CELLULAR PHYSIOLOGY | 2019年 / 234卷 / 06期

关键词：

autosomal disorders; dystrophin; limb-girdle muscular dystrophy; pathophysiology; weakness; WALKER-WARBURG-SYNDROME; OF-FUNCTION MUTATIONS; DEFECTIVE GLYCOSYLATION; ALPHA-DYSTROGLYCAN; MEMBRANE REPAIR; SPECTRUM; DISEASE; FAMILY; DEFICIENCY; FREQUENCY;

D O I：

10.1002/jcp.27907

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Limb-girdle muscular dystrophies (LGMDs) are a highly heterogeneous group of neuromuscular disorders that are associated with weakness and wasting of muscles in legs and arms. Signs and symptoms may begin at any age and usually worsen by time. LGMDs are autosomal disorders with different types and their prevalence is not the same in different areas. New technologies such as next-generation sequencing can accelerate their diagnosis. Several important pathological mechanisms that are involved in the pathology of the LGMD include abnormalities in dystrophin-glycoprotein complex, the sarcomere, glycosylation of dystroglycan, vesicle and molecular trafficking, signal transduction pathways, and nuclear functions. Here, we provide a comprehensive review that integrates LGMD clinical manifestations, prevalence, and some pathological mechanisms involved in LGMDs.

引用

页码：7874 / 7884

页数：11

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