Results 11 to 20 of about 5,214,246 (295)
The mechanism underlying transient weakness in myotonia congenita
eLife, 2021 In addition to the hallmark muscle stiffness, patients with recessive myotonia congenita (Becker disease) experience debilitating bouts of transient weakness that remain poorly understood despite years of study. We performed intracellular recordings from
Jessica H Myers +9 more
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Cellular Transplantation Alters the Disease Progression in Becker’s Muscular Dystrophy [PDF]
Case Reports in Transplantation, 2013 Becker’s Muscular Dystrophy (BMD) is a dystrophinopathy manifested as progressive muscle degeneration. Autologous Bone Marrow Mononuclear Cells (BMMNCs) have shown some myogenic potential. The paracrine effects of the BMMNCs reduce the inflammation and are thought to reduce muscle degeneration. We treated a 39 year old dental surgeon suffering from BMD.
Alok Sharma +5 more
openaire +4 more sources
Becker congenital myotonia in black African with molecular findings
Egyptian Journal of Medical Human Genetics, 2022 Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease.
Simon Azonbakin +6 more
doaj +1 more source
Frontiers in Neurology, 2020 Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1.
Chiara Orsini +8 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2022 There are scarce publications regarding the presentation and outcome of Becker muscular dystrophy in adulthood when idiopathic dilated cardiomyopathy is the initial disease manifestation.
Gaspar Del Rio-Pertuz +4 more
doaj +1 more source
Baseline fat fraction is a strong predictor of disease progression in Becker muscular dystrophy [PDF]
NMR in Biomedicine, 2022 In Becker muscular dystrophy (BMD), muscle weakness progresses relatively slowly, with a highly variable rate among patients. This complicates clinical trials, as clinically relevant changes are difficult to capture within the typical duration of a trial. Therefore, predictors for disease progression are needed.
Thom T. J. Veeger +7 more
openaire +3 more sources
Understanding Becker Muscular Dystrophy: Disease Overview and Natural History
European Medical JournalEMJ
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Patients With Becker Muscular Dystrophy Have Severe Paraspinal Muscle Involvement
Frontiers in Neurology, 2021 Introduction: Paraspinal muscles are important for gross motor functions. Impairment of these muscles can lead to poor postural control and ambulation difficulty.
Aisha M. Sheikh +5 more
doaj +1 more source
Frontiers in Neurology, 2021 Introduction: With the advent of emerging molecular therapies for muscular dystrophies, the need for knowledge about natural history course of such diseases is of utmost importance in the preparation for future trials.
Aisha M. Sheikh +3 more
doaj +1 more source