Results 1 to 10 of about 965 (104)

Transcriptome analysis of skeletal muscle in dermatomyositis, polymyositis, and dysferlinopathy, using a bioinformatics approach [PDF]

Frontiers in Neurology, 2023
BackgroundPolymyositis (PM) and dermatomyositis (DM) are two distinct subgroups of idiopathic inflammatory myopathies. Dysferlinopathy, caused by a dysferlin gene mutation, usually presents in late adolescence with muscle weakness, degenerative muscle ...
Young Yang, Seung-Hun Oh, Young-Chul Choi   +2 more
exaly   +4 more sources

Case report: A co-existing case of ulcerative colitis and dysferlinopathy in a male patient [PDF]

Frontiers in Medicine
Patients with inflammatory bowel disease (IBD) are at risk of developing malnutrition, severe dystrophic muscle weakness, and muscle atrophy. We present a case of a 33-year-old male patient who exhibited concurrent muscle atrophy, muscle weakness ...
Qiong Yan, Mingming Deng, Xiaolin Zhong   +2 more
exaly   +4 more sources

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
exaly   +4 more sources

Cosegregation of congenital dysferlinopathy phenotype and marinesco–sjögren syndrome: a case report with literature review [PDF]

BMC Pediatrics
The congenital dysferlinopathy phenotype is the rarest and earliest manifestation variant, described in two closely related Spanish and Turkish families, with a homozygous pathogenic frameshift variant in exon 26 of the DYSF gene. This article presents a
Sergey N. Bardakov, Alexey M. Emelin, Sergey S. Nikitin, Vasiliy М. Suslov, Ivan V. Dmitrochenko, Irina S. Kovalevskaya, Polina R. Korzun, Ivan A. Yakovlev, Аrtur А. Isaev, Roman V. Deev   +9 more
doaj   +2 more sources

Muscle MRI Pattern in Dysferlinopathy and its Correlation with Dysferlin Gait [PDF]

Annals of Indian Academy of Neurology
Background and Objectives: Magnetic resonance imaging (MRI) in dysferlinopathy has consistently demonstrated a particular pattern of affliction. We aimed to study muscle MRI characteristics of lower limbs in limb girdle muscular dystrophy (LGMD)-R2 ...
Tanushree Chawla, Dipti Baskar, Kiran Polavarapu, Veeramani Preethish-Kumar, Saraswati Nashi, Seena Vengalil, Karthik Kulanthaivelu, Jitender Saini, Akshata Huddar, Gopikrishnan Unnikrishnan, Bevinahalli Nanjegowda Nandeesh, Atchayaram Nalini   +11 more
doaj   +2 more sources

Analysis of Exon Skipping Applicability for Dysferlinopathies [PDF]

Cells
Exon skipping, mediated through antisense oligonucleotides (ASOs), is a promising approach to exclude pathogenic variants from the DYSF gene and treat dysferlinopathies.
Jamie Leckie, Sebastian Hernandez Rodriguez, Martin Krahn, Toshifumi Yokota   +3 more
doaj   +2 more sources

Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using 23Na‐MRI in Dysferlinopathy and Healthy Controls [PDF]

Journal of Cachexia, Sarcopenia and Muscle
Background Dysferlin plays a key role in cell membrane repair; its absence or malfunction in patients with dysferlin‐deficient limb girdle muscular dystrophy leads to muscle fibre death.
Mary A. Neal, Carla F. Bolano‐Diaz, Mark Richardson, Jassi Michell‐Sodhi, Robert Muni‐Lofra, Meredith K. James, Kieren G. Hollingsworth, Heather Hilsden, Ian Wilson, Andrew M. Blamire, Volker Straub, Peter E. Thelwall, Jordi Diaz‐Manera   +12 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

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments [PDF]

Biomolecules
Dysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This
Saeed Anwar, Toshifumi Yokota
doaj   +2 more sources

Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy

Molecular Therapy - Nucleic Acids, 2018
Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF) gene. Dysferlin protein plays a major role in plasma-membrane resealing.
Joshua J A Lee, Rika Maruyama, William Duddy   +2 more
exaly   +3 more sources