TY - JOUR
T1 - Prevalence, pathological mechanisms, and genetic basis of limb-girdle muscular dystrophies
T2 - A review
AU - Taghizadeh, Eskandar
AU - Rezaee, Mehdi
AU - Barreto, George E.
AU - Sahebkar, Amirhossein
N1 - Publisher Copyright:
© 2018 Wiley Periodicals, Inc.
PY - 2019/6
Y1 - 2019/6
N2 - 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.
AB - 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.
KW - autosomal disorders
KW - dystrophin
KW - limb-girdle muscular dystrophy
KW - pathophysiology
KW - weakness
UR - http://www.scopus.com/inward/record.url?scp=85058094120&partnerID=8YFLogxK
U2 - 10.1002/jcp.27907
DO - 10.1002/jcp.27907
M3 - Review article
C2 - 30536378
AN - SCOPUS:85058094120
SN - 0021-9541
VL - 234
SP - 7874
EP - 7884
JO - Journal of Cellular Physiology
JF - Journal of Cellular Physiology
IS - 6
ER -