Case report: A co-existing case of ulcerative colitis and dysferlinopathy in a male patient [PDF]
Frontiers in MedicinePatients 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 ...
Ming-ming Deng +2 more
exaly +4 more sources
Cosegregation of congenital dysferlinopathy phenotype and marinesco–sjögren syndrome: a case report with literature review [PDF]
BMC PediatricsThe 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 +9 more
doaj +2 more sources
Muscle MRI Pattern in Dysferlinopathy and its Correlation with Dysferlin Gait [PDF]
Annals of Indian Academy of NeurologyBackground 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 +11 more
doaj +2 more sources
Insights into the heterogeneous muscle lipidome of dysferlin-deficient mice: effects of age, muscle type, and sex [PDF]
Skeletal MuscleDysferlinopathy is an age-dependent muscular dystrophy caused by loss of the membrane-associated protein dysferlin. Disease severity increases with age and selectively affects specific muscle groups, yet the molecular basis for this vulnerability remains
Stacey N. Keenan +6 more
doaj +2 more sources
Analysis of Exon Skipping Applicability for Dysferlinopathies [PDF]
CellsExon skipping, mediated through antisense oligonucleotides (ASOs), is a promising approach to exclude pathogenic variants from the DYSF gene and treat dysferlinopathies.
Jamie Leckie +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 MuscleBackground 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 +12 more
doaj +2 more sources
Dysferlinopathy as cause of long-term hyperCKemia with preserved strength [PDF]
Orphanet Journal of Rare DiseasesBackground 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 +5 more
doaj +2 more sources
Two homozygous adjacent novel missense mutations in DYSF gene caused dysferlinopathy due to splicing abnormalities [PDF]
Frontiers in GeneticsBackground: 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 +4 more
doaj +2 more sources
A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy
Biomedicines, 2023 Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of them involve major disruptions of the Dysf gene locus ...
Océane Ballouhey +8 more
doaj +1 more source
Frontiers in Neurology, 2022 BackgroundDysferlinopathy refers to a group of muscle diseases with progressive muscle weakness and atrophy caused by pathogenic mutations of the DYSF gene.
Yan Xie +14 more
doaj +1 more source