Results 141 to 150 of about 6,773 (176)

Becker Muscular Dystrophy

2014
After the historical description by Becker and Kiener in 1955 in affected families, the discovery of the dystrophin gene led to a drastic reconsideration of clinical phenotypes associated with deletion or duplication of the dystrophin gene (Table 3.1), and several different clinical entities were described with associated different prognosis according ...
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Muscle MRI in Becker muscular dystrophy

Neuromuscular Disorders, 2012
The aim of this study was to evaluate pelvis and lower limb muscle MRI scans of 46 patients affected by Becker muscular dystrophy (BMD), subdivided according to disease severity, ranging from clinically asymptomatic patients to patients who had lost ambulation.
Tasca, Giorgio, Iannaccone, Elisabetta, Monforte, Mauro, Masciullo, Marcella, Bianco, Flaviana, Laschena, Franceso, Ottaviani, Pierfrancesco, Pelliccioni, Marco, Pane, Marika, Mercuri, Eugenio Maria, Ricci, Enzo   +10 more
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Cardiac transplantation in Becker muscular dystrophy

Neuromuscular Disorders, 1992
Becker muscular dystrophy is associated with abnormal cardiac features in about 75% of cases; up to one-third will develop ventricular dilatation leading to congestive cardiac failure. As this form of muscular dystrophy is relatively benign, failure to respond to medical treatment warrants assessment for cardiac transplantation.
R M, Quinlivan, V, Dubowitz
exaly   +3 more sources

Prenatal diagnosis in Becker muscular dystrophy

Clinical Genetics, 1987
Prenatal diagnosis in a pregnancy at risk for Becker muscular dystrophy is reported. The diagnosis was made prior to 12 weeks of gestation by typing a CVS sample for DNA markers.
S, Wood, R J, Shukin, S L, Yong, D, Wilson, D, Kalousek, A, Chudley   +5 more
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An unusual variant of Becker muscular dystrophy

Annals of Neurology, 1990
AbstractWe report on 5 brothers with slowly progressive limbgirdle weakness. Calf hypertrophy was absent. The levels of creatine kinase, electromyography, and findings from a muscle biopsy specimen were compatible with muscular dystrophy. The propositus's biopsy specimen also showed numerous rimmed vacuoles.
de Visser, M., Bakker, E., Defesche, J. C., Bolhuis, P. A., van Ommen, G. J.   +4 more
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Homozygous female Becker muscular dystrophy

American Journal of Medical Genetics Part A, 2009
AbstractWe report, for the first time, on a female Becker muscular dystrophy (BMD) patient with homozygous dystrophin deletion. The 14‐year‐old patient, product of consanguineous parents, presented with a 7‐year history of exercise intolerance and recurrent myoglobinuria.
Katsunori, Fujii, Narihiro, Minami, Yukiko, Hayashi, Ichizo, Nishino, Ikuya, Nonaka, Yuzo, Tanabe, Jun-ichi, Takanashi, Yoichi, Kohno   +7 more
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A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy

Disability and Rehabilitation, 2017
Swallowing dysfunction has been reported in Duchenne muscular dystrophy (DMD), but has not been studied in Becker muscular dystrophy (BMD). The aims of this study were to report the characteristics of swallowing dysfunction in BMD compared with DMD.The study participants were 18 patients with BMD and 18 patients with DMD. All the patients were examined
Yuka, Yamada, Michiyuki, Kawakami, Ayako, Wada, Tomoyoshi, Otsuka, Kaori, Muraoka, Meigen, Liu   +5 more
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Enormous dystrophin in a patient with Becker muscular dystrophy

Neurology, 1990
We describe a patient with a duplication of more than 400,000 bp of the dystrophin gene. The duplication is completely contained within the gene, and the duplicated exons are predicted to be "in frame" with the rest of the gene. Dystrophin protein is detected in the patient's muscle as a single species of approximately 600 kDa (normal, approximately ...
Angelini C., Beggs A. H., Hoffman E. P., Fanin M., Kunkel L. M.   +4 more
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Histopathological Findings in Becker-Type Muscular Dystrophy

Archives of Neurology, 1984
Muscle biopsy specimens from 14 patients with Becker-type muscular dystrophy were analyzed to investigate possible neurogenic factors underlying the histopathological changes. Group atrophy, pyknotic nuclear clumps, and angular small fibers were seen respectively in 71%, 85%, and 100% of the cases.
ten Houten, R., de Visser, M.
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Duchenne and Becker Muscular Dystrophies

2017
Duchenne muscular dystrophy (DMD) is the commonest young onset muscular dystrophy. Clinical clues are positive Gower’s sign and muscle (pseudo)hypertrophy. CK level is significantly high. It is X-linked recessive and is readily diagnosed with the help of genetic testing. BMD is a milder form of DMD, having better prognosis.
Satish V. Khadilkar, Rakhil S. Yadav, Bhagyadhan A. Patel   +2 more
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