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 ...
Ha-Neul Jeong +8 more
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Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach [PDF]
Frontiers in Neurology, 2022 Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported.
Anna G. Mayhew +48 more
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Muscle membrane repair and inflammatory attack in dysferlinopathy [PDF]
Skeletal Muscle, 2011 Repair of plasma membrane tears is an important normal physiological process that enables the cells to survive a variety of physiological and pathological membrane lesions.
Han Renzhi
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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
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Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy [PDF]
Frontiers in Neurology, 2020 Practice of sports during childhood or adolescence correlates with an earlier onset and more rapidly progressing phenotype in dysferlinopathies. To determine if this correlation relates to greater muscle pathology that persists into adulthood, we ...
Ursula Moore +30 more
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Water T2 could predict functional decline in patients with dysferlinopathy [PDF]
Journal of Cachexia, Sarcopenia and Muscle, 2022 Background Water T2 (T2H2O) mapping is increasingly being used in muscular dystrophies to assess active muscle damage. It has been suggested as a surrogate outcome measure for clinical trials.
Ursula Moore +26 more
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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
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The Dysferlin Domain-Only Protein, Spo73, Is Required for Prospore Membrane Extension in
mSphere, 2016 Sporulation of Saccharomyces cerevisiae is a developmental process in which an ascus containing four haploid spores forms from a diploid cell. During this process, newly formed membrane structures called prospore membranes extend along the nuclear ...
Yuuya Okumura +9 more
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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
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 ...
Limin Li +5 more
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