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

dc.contributor.authorTaghizadeh E.
dc.contributor.authorRezaee M.
dc.contributor.authorBarreto G.E.
dc.contributor.authorSahebkar A.
dc.date.accessioned2020-09-02T22:29:21Z
dc.date.available2020-09-02T22:29:21Z
dc.date.issued2019
dc.identifier10.1002/jcp.27907
dc.identifier.citation234, 6, 7874-7884
dc.identifier.issn00219541
dc.identifier.urihttps://hdl.handle.net/20.500.12728/6426
dc.descriptionLimb-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. © 2018 Wiley Periodicals, Inc.
dc.language.isoen
dc.publisherWiley-Liss Inc.
dc.subjectautosomal disorders
dc.subjectdystrophin
dc.subjectlimb-girdle muscular dystrophy
dc.subjectpathophysiology
dc.subjectweakness
dc.subjectdystrophin
dc.subjectglycoprotein
dc.subjectclinical feature
dc.subjectdisease classification
dc.subjectdisease course
dc.subjectgenetic analysis
dc.subjectglycosylation
dc.subjecthuman
dc.subjectlimb girdle muscular dystrophy
dc.subjectpathogenesis
dc.subjectprevalence
dc.subjectpriority journal
dc.subjectReview
dc.subjectsarcomere
dc.subjectsignal transduction
dc.subjectcachexia
dc.subjectgenetics
dc.subjecthigh throughput sequencing
dc.subjectlimb girdle muscular dystrophy
dc.subjectmetabolism
dc.subjectneuromuscular disease
dc.subjectpathology
dc.subjectskeletal muscle
dc.subjectCachexia
dc.subjectHigh-Throughput Nucleotide Sequencing
dc.subjectHumans
dc.subjectMuscle, Skeletal
dc.subjectMuscular Dystrophies, Limb-Girdle
dc.subjectNeuromuscular Diseases
dc.subjectSarcomeres
dc.titlePrevalence, pathological mechanisms, and genetic basis of limb-girdle muscular dystrophies: A review
dc.typeReview


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