Results 121 to 130 of about 275,647 (194)
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
Annals of Neurology, Volume 99, Issue 6, Page 1545-1554, June 2026.Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul +68 more
wiley +1 more source
Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies
iScienceSummary: The routine need for myonuclear turnover in skeletal muscle, together with more sporadic demands for hypertrophy and repair, are performed by resident muscle stem cells called satellite cells.
Elise N. Engquist +5 more
doaj +1 more source
Neurology International, 2019 The co-existence of facioscapulohumeral muscle dystrophy (FSHD) and myasthenia gravis (MG) is very rare and few cases have been described in the literature.
Feryal Nauman +2 more
doaj +1 more source
Cellular and animal models for facioscapulohumeral muscular dystrophy
Disease Models & Mechanisms, 2020 Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy and presents with weakness of the facial, scapular and humeral muscles, which frequently progresses to the lower limbs and truncal areas, causing profound
Alec M. DeSimone +3 more
doaj +1 more source
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]
, 2008 Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Geddes, Stella M. +8 more
core +1 more source
Turkish Journal of Anaesthesiology and ReanimationFacioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy that can affect individuals of all age groups. Its prevalence is reported to be 0.4-1 in 10,000 people. Because of the low occurrence of FSHD, anaesthetic management is primarily based
Mete Manici +4 more
doaj +1 more source
Creatine Phosphokinase in Facioscapulohumeral Muscular Dystrophy [PDF]
BMJ, 1971 Study of the serum creatine kinase levels in young patients with facioscapulohumeral muscular dystrophy suggests that enzyme assay may be valuable as a screening procedure for assessing the status of relatives of an affected individual who have no previous clinical history, and that consequently it may be of use in genetic counselling.
openaire +2 more sources
, 2016 Facioscapulohumeral muscular dystrophy (FSHD) is characterized by extreme variability in symptoms with females being less severely affected than males and presenting a higher proportion of asymptomatic carriers.
Marsha Pellegrino +13 more
core
Anti-HMGCR myopathy mimicking facioscapulohumeral muscular dystrophy
Open MedicineStatin use can lead to various muscle-related issues, including benign creatine kinase (CK) elevations, myalgias, toxic myopathies, rhabdomyolysis, and immune-mediated necrotizing myositis (IMNM), which primarily affects older males.
Braun Andreas Albert +5 more
doaj +1 more source