Results 1 to 10 of about 120 (113)

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, Raimundo Neudson Maia Alcântara, Sheila Márcia de Araújo Fontenele, Carlos Maurício de Castro Costa, Francisco de Assis Aquino Gondim   +4 more
doaj   +4 more sources

Limb-girdle muscular dystrophy type 2B (LGMD2B) caused by pathogenic splice and missense variants of DYSF gene among Iranians with muscular dystrophy

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, Najmeh Ahangari, Hadis Malek, Mohammad Doosti, Paria Najarzadeh Torbati, Ehsan Ghayoor Karimiani   +5 more
doaj   +3 more sources

Impaired myogenesis in limb girdle muscular dystrophy type 2B

Scientific Reports
The 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, Renata Ishiba, Antonio Fernando Ribeiro-Junior, Isabela Aquino Zogbi, Dounia Bouragba, Anne Bigot, Vincent Mouly, Mariz Vainzof   +7 more
doaj   +4 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, Shirzadeh Tina, Fatemeh Zafarghandi Motlagh, Andrei Surguchov, Yalda Nilipour, Sirous Zeinali   +5 more
doaj   +3 more sources

Uncovering compound heterozygous DYSF variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B

Frontiers in Genetics
This 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, Jinlan Li, Jie Zhou, Jie Zhou, Chunbo Ji, Chunbo Ji, Siqing Ma, Siqing Ma, Jianying Zhu, Jianying Zhu, Tiejun Yang, Tiejun Yang, Danyang Dong, Danyang Dong, Yang Ping   +14 more
doaj   +4 more sources

Clinical and imaging differences between limb⁃girdle muscular dystrophy type 2B and immune⁃mediated necrotizing myopathy

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, Yan⁃li WANG, Zhao⁃xia WANG, Wei ZHANG, Yun YUAN   +4 more
doaj   +1 more source

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., Al-Ghamdi, Sameer, Alkhathlan, Khalid M., Alkhalidi, Hisham M.   +3 more
openaire   +2 more sources

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, Leonidas A. Phylactou   +1 more
doaj   +1 more source

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, Francesca Polito, Rosaria Oteri, Roberto Arrigo, Anna Maria Ciranni, Olimpia Musumeci, Sonia Messina, Carmelo Rodolico, Rosa Maria Di Giorgio, Giuseppe Vita, M'Hammed Aguennouz   +10 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, Gregory A Cox, Kevin D Mills, John P Sundberg   +3 more
doaj   +1 more source