Results 1 to 10 of about 2,221 (162)

Exon Skipping in a Dysf-Missense Mutant Mouse Model [PDF]

Molecular Therapy - Nucleic Acids, 2018
Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and
Helena Escobar, Andreas Marg, Cyriaque Beley   +2 more
exaly   +7 more sources

Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan

Molecular Genetics & Genomic Medicine, 2023
Background Dysferlinopathy has a high prevalence in relatively isolated ethnic groups where consanguineous marriages are characteristic and/or the founder effect exists.
Sergey N Bardakov, Roman V Deev, N N Khromov-Borisov   +2 more
exaly   +4 more sources

Generation of a novel Dysferlin microdeletion knock-in mouse model mimicking muscular dystrophy–like pathology [PDF]

Scientific Reports
Limb-Girdle Muscular Dystrophy type R2 (LGMD-R2) is caused by mutations in the DYSFERLIN (DYSF) gene, leading to progressive muscle weakness and defective membrane repair. In our previous study, we identified a novel five-nucleotide microdeletion in DYSF
Yen-Lin Chen, Wei-Ning Lin, Pei-Yi Pan, Wei-Chi Ku, Pei Wang, Ping-Keung Yip, Ko-Chung Tsui, Yi-No Wu, Ying-Hung Lin   +8 more
doaj   +2 more sources

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

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   +2 more sources

DYSF gene variant spectrum in Arab populations across eight countries: A systematic review [PDF]

Biomolecules & Biomedicine
Dysferlinopathies are a subset of autosomal recessive muscular dystrophies resulting from pathogenic variants in the dysferlin (DYSF) gene. The prevalence of dysferlinopathies remains inadequately defined.
Fatimazahra Smaili, Khawla Zerrouki, Fatima Ezzahra Aouni, Mariam Tajir   +3 more
doaj   +2 more sources

A female case report of LGMD2B with compound heterozygous mutations of the DYSF gene and asymptomatic mutation of the X-linked DMD gene

Frontiers in Neurology, 2023
We report the case of a 31-year-old Chinese woman with a chief complaint of weakness in the lower limbs, which was diagnosed as limb-girdle muscular dystrophy 2B (LGMD2B) with compound heterozygous mutations of the DYSF gene.
Zhang Mingjie
exaly   +3 more sources

Two homozygous adjacent novel missense mutations in DYSF gene caused dysferlinopathy due to splicing abnormalities

Frontiers in Genetics
Background: Dysferlinopathy is an autosomal recessive disorder caused by mutations in the DYSF gene. This study reported two homozygous adjacent missense mutations in the DYSF gene, presenting clinically with bilateral lower limb weakness and calf ...
Lun Wang, Yan Zhou, Tiantian Wei, Hongyao Huang, Hongyao Huang   +4 more
exaly   +3 more sources

Impaired myogenesis in limb girdle muscular dystrophy type 2B [PDF]

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   +2 more sources

Multiple sclerosis severity variant in DYSF-ZNF638 locus associates with neuronal loss and inflammation [PDF]

iScience
Summary: The genetic variant rs10191329AA has been identified to associate with faster disability accrual in multiple sclerosis (MS). We investigated the impact of rs10191329AA carriership on MS pathology and flanking genes dysferlin (DYSF) and zinc ...
Hendrik J. Engelenburg, Aletta M.R. van den Bosch, J.Q. Alida Chen, Cheng-Chih Hsiao, Marie-José Melief, Adil Harroud, Inge Huitinga, Jörg Hamann, Joost Smolders   +8 more
doaj   +2 more sources

Dysferlinopathy as cause of long-term hyperCKemia with preserved strength [PDF]

Orphanet Journal of Rare Diseases
Background Dysferlin (DYSF) has a crucial role in sarcolemmal repair. While DYSF mutations commonly manifest as limb-girdle muscular dystrophy (LGMDR2) or distal Miyoshi myopathy, atypical manifestations, such as asymptomatic hyperCKemia and ...
Ikreet Cheema, Jacob Goodwin, Teerin Liewluck, Robert Charles Bucelli, Alan Pestronk, Margherita Milone   +5 more
doaj   +2 more sources