Results 1 to 10 of about 2,287 (160)

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

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
doaj   +9 more sources

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

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, Аrtur А. Isaev, Nikita N. Khromov‐Borisov, Evgeniy D. Kopylov, Мaria R. Savchuk, Maxim S. Pushkin, Evgeniy V. Presnyakov, Raisat M. Magomedova, Patimat G. Achmedova, Zoya R. Umakhanova, Vladimir S. Kaimonov, Elizaveta V. Musatova, Konstantin А. Blagodatskikh, Aleksandra А. Tveleneva, Yana V. Sofronova, Ivan A. Yakovlev   +16 more
doaj   +8 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 [PDF]

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.
Xiaojie Cao, Li Zeng, Zhijie Lu, Jin Fan, Song Tan, Mingjie Zhang, Zegang Yin   +6 more
doaj   +8 more sources

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, Najmeh Ahangari, Hadis Malek, Mohammad Doosti, Paria Najarzadeh Torbati, Ehsan Ghayoor Karimiani   +5 more
doaj   +7 more sources

A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B [PDF]

International Journal of Molecular Sciences, 2022
Mutations in the DYSF gene, encoding dysferlin, are responsible for Limb Girdle Muscular Dystrophy type R2/2B (LGMDR2/2B), Miyoshi myopathy (MM), and Distal Myopathy with Anterior Tibialis onset (MDAT). The size of the gene and the reported inter and intra familial phenotypic variability make early diagnosis difficult.
Patrizia Spadafora, Antonio Qualtieri, Francesca Cavalcanti   +2 more
exaly   +9 more sources

Clinical description of a homozygous Lys 1169* variant in the DYSF gene associated with autosomal recessive Miyoshi muscular dystrophy type 1: A familial case report [PDF]

Heliyon
Miyoshi Muscular Dystrophy Type 1 is a rare autosomal recessive myopathy caused by mutations in the dysferlin (DYSF) gene. This disease presents with progressive distal lower limb weakness, such as gastrocnemius and soleus muscles resulting in difficulty
Alex S. Aguirre, Vanessa I. Romero
doaj   +7 more sources

Dual Adeno-Associated Virus 9 with Codon-Optimized DYSF Gene Promotes In Vivo Muscle Regeneration and May Decrease Inflammatory Response in Limb Girdle Muscular Dystrophy Type R2 [PDF]

International Journal of Molecular Sciences, 2023
Dysferlinopathy treatment is an active area of investigation. Gene therapy is one potential approach. We studied muscle regeneration and inflammatory response after injection of an AAV-9 with a codon-optimized DYSF gene. A dual-vector system AAV.DYSF.OVERLAP with overlapping DYSF cDNA sequences was generated.
Ekaterina N Grafskaia, Sergey N Bardakov
exaly   +7 more sources

Whole Exome Sequencing Identified a Stop‐Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family [PDF]

International Journal of Genomics
Introduction: Muscular dystrophy (MD) refers to a group of hereditary disorders characterized by progressive muscle degeneration, often caused by a deficiency or insufficient levels of glycoproteins in muscle cell membranes.
Mina Kazemzadeh, Farzaneh Jalalypour, Ahad Mokhtarzadeh   +2 more
exaly   +7 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   +5 more sources

Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene. [PDF]

Child Neurol Open, 2022
Dysferlinopathies are a group of phenotypically heterogeneous disorders caused by pathogenic variants in the DYSF (DYStrophy-associated Fer-1-like) gene encoding dysferlin. The phenotypic spectrum includes Miyoshi muscular dystrophy (MMD), limb-girdle muscular dystrophy type R2, distal myopathy with anterior tibial onset, and isolated hyperCKemia.
Bryant G, Moore SA, Nix JS, Rice G, Gokden M, Veerapandiyan A.   +5 more
europepmc   +4 more sources