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Non-myogenic tumors display altered expression of dystrophin (DMD) and a high frequency of genetic alterations
(Impact Journals LLC, 2017-01)
DMD gene mutations have been associated with the development of Dystrophinopathies. Interestingly, it has been recently reported that DMD is involved in the development and progression of myogenic tumors, assigning DMD a ...
Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion
(John Wiley & Sons Inc, 2009-02)
We report a Becker muscular dystrophy (BMD) family with one 5-year-old affected patient and a 69-year-old asymptomatic grandfather. Dystrophin gene multiplex polymerase chain reaction and multiplex ligation-dependant probe ...
Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort
(Pergamon-Elsevier Science Ltd, 2018-12)
Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical ...
The value of dog for knowledge of human Duchenne muscular dystrophy: New findings in pathogenesis and therapeutic advances
(2015-04-01)
Duchenne muscular dystrophy (DMD) is the most devastating form of inherited muscular dystrophy in men. The loss of dystrophin causes progressive weakness and degeneration of skeletal and cardiac muscle leading to the ...
Human adipose tissue derived pericytes increase life span in Utrn tm1Ked Dmd mdx /J Mice
(SpringerTotowa, 2014-06-19)
Duchenne muscular dystrophy (DMD) is still an untreatable lethal X-linked disorder, which affects 1 in 3500 male births. It is caused by the absence of muscle dystrophin due to mutations in the dystrophin gene. The potential ...
Influence of different types of corticosteroids on heart rate variability of individuals with duchenne muscular dystrophy—a pilot cross sectional study
(2021-08-01)
Individuals with Duchenne Muscular Dystrophy (DMD) have an impairment of cardiac autonomic function categorized by parasympathetic reduction and sympathetic predominance. The objective of this study was to assess the cardiac ...
Deleciones en el gen de la distrofina en 62 familias colombianas: correlación genotipofenotipo para la distrofia muscular de Duchenne y Becker.
(2013-11-30)
Introducción: La correlación genotipo-fenotipo se estableció mediante el análisis de
deleciones del gen de la distrofina en pacientes con distrofia muscular de Duchenne y
Becker (DMD/DMB).
Objetivos: Establecer la ...
Biochemistry, cytogenetics and DMD gene mutations in South Indian patients with duchenne muscular dystrophy
(Universidad Continental, 2017)
Thirty children aged 3-10 years with clinically confirmed or suspected Duchenne Muscular Dystrophy (DMD) were analyzed for chromosomal aberrations using cytological preparations, biochemical changes using enzyme kit protocol, ...