Results 21 to 30 of about 39,769 (244)

Duchenne muscular dystrophy [PDF]

Biochemical Society Transactions, 1984
What is Duchenne muscular dystrophy? Duchenne muscular dystrophy is a muscle-wasting condition caused by the lack of a protein called dystrophin. It usually affects only boys. About 100 boys with Duchenne muscular dystrophy are born in the UK each year and there are about 2,500 boys and young men known to be living with the condition in the UK at any ...
openaire   +4 more sources

Cardiac function associated with home ventilator care in Duchenne muscular dystrophy [PDF]

Korean Journal of Pediatrics, 2018
PurposeCardiomyopathy is becoming the leading cause of death in patients with Duchenne muscular dystrophy because mechanically assisted lung ventilation and assisted coughing have helped resolve respiratory complications.
Sangheun Lee, Heeyoung Lee, Lucy Youngmin Eun, Seung Woong Gang   +3 more
doaj   +1 more source

Advances in Dystrophinopathy Diagnosis and Therapy

Biomolecules, 2023
Dystrophinopathies are x-linked muscular disorders which emerge from mutations in the Dystrophin gene, including Duchenne and Becker muscular dystrophy, and dilated cardiomyopathy.
Fawzy A. Saad, Gabriele Siciliano, Corrado Angelini   +2 more
doaj   +1 more source

Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report

Journal of Medical Case Reports, 2011
Introduction Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare.
Kaur Jasmeet, Sharma Sanjeevan, Sharma Ajay, Das Satyaranjan, Nair Velu, Mishra DK   +5 more
doaj   +1 more source

Generation of three Duchenne muscular dystrophy patient-derived induced pluripotent stem cell (iPSC) lines ICGi002-A, ICGi002-B and ICGi002-C

Stem Cell Research, 2020
Duchenne muscular dystrophy (DMD) is a severe and rapidly progressive hereditary muscular disease with X-linked recessive inheritance, occurring mainly in males.
K.R. Valetdinova, M.A. Maretina, Y.V. Vyatkin, M.P. Perepelkina, A.A. Egorova, V.S. Baranov, A.V. Kiselev, P.M. Gershovich, S.M. Zakian   +8 more
doaj   +1 more source

Symptoms and impacts of ambulatory nonsense mutation Duchenne muscular dystrophy: a qualitative study and the development of a patient-centred conceptual model

Journal of Patient-Reported Outcomes, 2021
Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory ...
Kate Williams, Ian Davidson, Mark Rance, Axel Boehnke, Katharina Buesch, Sarah Acaster   +5 more
doaj   +1 more source

Distrofias musculares en el paciente adulto

Revista Médica Clínica Las Condes, 2018
RESUMEN: Las distrofias musculares son un grupo de trastornos hereditarios, degenerativos, progresivos del músculo estriado, cuya manifestación cardinal es la debilidad de la musculatura estriada esquelética.
Nicholas Earle, MD, Jorge A. Bevilacqua, MD, PhD   +1 more
doaj   +1 more source

Palliative care services in families of males with muscular dystrophy: Data from MD STARnet

SAGE Open Medicine, 2019
Introduction: Information on use of palliative care services among individuals with Duchenne and Becker muscular dystrophy is scant despite the clearly documented need.
Jennifer G Andrews, Shree Pandya, Christina Trout, Treeva Jaff, Dennis Matthews, Christopher Cunniff, F John Meaney   +6 more
doaj   +1 more source

Induced Pluripotent Stem Cells for Duchenne Muscular Dystrophy Modeling and Therapy

Cells, 2018
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, caused by mutation of the DMD gene which encodes the protein dystrophin. This dystrophin defect leads to the progressive degeneration of skeletal and cardiac muscles.
Lubos Danisovic, Martina Culenova, Maria Csobonyeiova   +2 more
doaj   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source