Results 11 to 20 of about 58,003 (251)

Coexistence of congenital central hypoventilation syndrome, Hirschsprung disease, and Becker muscular dystrophy

Brain and development. Case reports, 2023
Ayako Sasaki, Masashi Ogasawara, Hirofumi Komaki   +2 more
exaly   +2 more sources

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, Kirsten Denman, Chris DuPont, Ahmed A Hawash, Kevin R Novak, Andrew Koesters, Manfred Grabner, Anamika Dayal, Andrew A Voss, Mark M Rich   +9 more
doaj   +1 more source

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, Amruta Paranjape, Hemangi Sane, Khushboo Bhagawanani, Nandini Gokulchandran, Prerna Badhe   +5 more
openaire   +4 more sources

Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases

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, Cristina Morataya, Kanak Parmar, Sarah Dubay, Erwin Argueta-Sosa   +4 more
doaj   +1 more source

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita

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, Roberta Petillo, Paola D'Ambrosio, Manuela Ergoli, Esther Picillo, Marianna Scutifero, Luigia Passamano, Alessandro De Luca, Luisa Politano   +8 more
doaj   +1 more source

Understanding Becker Muscular Dystrophy: Disease Overview and Natural History

European Medical Journal
EMJ
doaj   +2 more sources

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, Nienke M. van de Velde, Kevin R. Keene, Erik H. Niks, Melissa T. Hooijmans, Andrew G. Webb, Jurriaan H. de Groot, Hermien E. Kan   +7 more
openaire   +3 more sources

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, Karen Rudolf, Josefine de Stricker Borch, Tahmina Khawajazada, Nanna Witting, John Vissing   +5 more
doaj   +1 more source

Quantitative Muscle MRI as Outcome Measure in Patients With Becker Muscular Dystrophy—A 1-Year Follow-Up Study

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, Karen Rudolf, Nanna Witting, John Vissing   +3 more
doaj   +1 more source

Inducible Heat Shock Protein 70 Levels in Patients and the mdx Mouse Affirm Regulation during Skeletal Muscle Regeneration in Muscular Dystrophy

Frontiers in Bioscience-Scholar, 2022
Background: Stress-inducible heat shock protein 70 (HSP70) is both a protective chaperone involved in protein homeostasis and an immune regulator. In both capacities, HSP70 has been implicated in muscle disorders, yet with fragmented and differing ...
Gwenny Cosemans, Caroline Merckx, Jan L. De Bleecker, Boel De Paepe   +3 more
doaj   +1 more source