The genetic diagnosis is not easily made because of the large size of the dystrophin gene, complex mutational spectrum and high number of tests patients undergo for diagnosis. Multiplex ligation-dependent probe amplification (MLPA) has been used as the initial diagnostic test of choice. Although ...
Duchenne muscular dystrophy (DMD) is a rare, X-linked neuromuscular disease caused by pathogenic variants in the DMD gene that result in the absence of functional dystrophin, beginning at birth and leading to progressive impaired motor function, loss of
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy - Learn about the causes, symptoms, diagnosis & treatment from the MSD Manuals - Medical Consumer Version.
A child with duchenne muscular dystrophy: A case report of a rare diagnosis among AfricansgeneticsneurologyIn Africa, lack of awareness and low index of suspicion of rare diseases like dystrophinopathies, directly or indirectly, contributes to the increased morbidity and mortality. Therefore, even ...
examinations were limited to all boys with delayed motor development during the first 2 years of life. Finally, it is believed that the two most important preventive problems in DMD, carrier detection and prenatal diagnosis, will ultimately be solved by means of the rapidly advancing DNA ...
The TREAT-NMD DMD Global Database: analysis of more than 7000 Duchenne muscular dystrophy mutations Hum Mutat, 36 (2015), pp. 395-402 CrossrefView in ScopusGoogle Scholar 29 A. Aartsma-Rus, I.B. Ginjaar, K. Bushby The importance of genetic diagnosis for Duchenne muscular dystrophy J Me...
Creatine phosphokinase (CPK) activity is markedly elevated in the plasma of affected infants postnatally and may be similarly elevated in early fetal life. We are testing this hypothesis by measuring plasma CPK at 18-20 weeks gestation. Plasma samples are obtained by placental venipuncture during ...
(2006). Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice and zebrafish. J. Hum. Genet. 51, 397-406.Kunkel LM, Bachrach E, Bennett RR, Guyon J, Steffen L. Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish. J ...
A late diagnosis of Duchenne muscular dystrophy has implications for both child and family. This repeat audit has shown that the diagnosis continues to be delayed. The failure to recognize that non-motor, and specifically speech and language delay are common features of this disease may detract fr...
Molecular Diagnosis of Duchenne.Becker Muscular Dystrophy by Polymerase Chain Reaction and Microsatellite Analysis.Presents an analysis several deletion-prone exons of the dystrophin gene by polymerase chain reaction. Methodology; Results; Discussion.