Limb-girdle muscular dystrophy type 2B (LGMD2B) caused by pathogenic splice and missense variants of DYSF gene among Iranians with muscular dystrophy [PDF]
Advanced Biomedical Research, 2023 Background:The phenotypic range of limb-girdle muscular dystrophies (LGMDs) varies significantly because of genetic heterogeneity ranging from very mild to severe forms.
Fatemeh Arab +5 more
doaj +6 more sources
Uncovering compound heterozygous DYSF variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B [PDF]
Frontiers in GeneticsThis case concerns a Chinese female patient who was referred to our clinic having complained of weakness in her lower limbs. Following a series of diagnostic procedures, including electrophysiology, muscle biopsy and genetic analysis, the patient was ...
Jinlan Li +14 more
doaj +7 more sources
Impaired myogenesis in limb girdle muscular dystrophy type 2B [PDF]
Scientific ReportsThe skeletal muscle tissue has a remarkable capacity of growth and regeneration. Fusion of myoblasts and myotubes elongation are fundamental processes in muscle development.
Lucas Santos Souza +7 more
doaj +5 more sources
Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect [PDF]
Molecular Genetics & Genomic Medicine, 2019 Background Dysferlinopathies are a group of autosomal recessive limb‐girdle muscular dystrophies (LGMDs) caused by mutations in DYSF (#603,009). This gene encodes a transmembrane protein called dysferlin.
Marzieh Mojbafan +5 more
doaj +4 more sources
Limb-girdle muscular dystrophy type 2B mimicking polymyositis Distrofia muscular de cinturas tipo 2B simulando polimiosite [PDF]
Arquivos de Neuro-Psiquiatria, 2008 Hospital Universitario Walter Cantidio, Universidade Federal do Ceara, Fortaleza CE, Brazil.Received 1 August 2007, received in final form 23 October 2007. Accepted 7 December 2007.Dr. Francisco de Assis Aquino Gondim – Universidade Federal do Ceara / CP 3157 - Rua Cel Nunes de Melo 1127 - 60430-270 Fortaleza CE - Brasil.
Leonardo Halley Carvalho Pimentel +4 more
doaj +4 more sources
Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B [PDF]
Neurosciences, 2020 Dysferlinopathies are rare autosomal recessive muscular dystrophies caused by mutation in the dysferlin (DYSF) gene, resulting in varied phenotype. In this case report, we review a 26-year-old diabetic male patient who presented to hospital suffering from progressive muscle weakness.
Aldosari, Khalid H. +3 more
openaire +3 more sources
Hippo signaling pathway is altered in Duchenne muscular dystrophy. [PDF]
PLoS ONE, 2018 Hippo signaling pathway is considered a key regulator of tissue homeostasis, cell proliferation, apoptosis and it is involved in cancer development. In skeletal muscle, YAP, a downstream target of the Hippo pathway, is an important player in myoblast ...
Gian Luca Vita +10 more
doaj +2 more sources
Chinese Journal of Contemporary Neurology and Neurosurgery, 2020 Objective To investigate the clinical and imaging differences between limb⁃girdle muscular dystrophy type 2B (LGMD2B) and immune⁃mediated necrotizing myopathy (IMNM).
Ya⁃wen ZHAO +4 more
doaj +1 more source
Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring
Molecular Therapy: Methods & Clinical Development, 2020 Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou +1 more
doaj +1 more source
Rhabdomyosarcomas in aging A/J mice. [PDF]
PLoS ONE, 2011 Rhabdomyosarcomas (RSCs) are skeletal muscle neoplasms found in humans and domestic mammals. The A/J inbred strain developed a high frequency (between 70-80%) of adult pleomorphic type (APT) RSC at >20 months of age while BALB/cByJ also develop RSC but ...
Roger B Sher +3 more
doaj +1 more source