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Recessive myotonia congenita (Becker’s disease)

Stourac P, Kosinova M: Recessive myotonia congenita (Becker’s disease), 2019
Stourac, Petr, Kosinova, Martina
openaire   +1 more source

[From gene to disease; the dystrophin gene involved in Duchenne and Becker muscular dystrophy].

Nederlands tijdschrift voor geneeskunde, 2002
Duchenne and Becker muscular dystrophy (DMD and BMD) are progressive disorders, which almost exclusively affect males. DMD is the more severe type with an onset at 2-3 years of age. Patients become wheelchair-bound before the age of 13 and often die due to cardiac arrest or respiratory insufficiency. BMD, a more varying phenotype which may overlap with
J T, den Dunnen, M, de Visser, E, Bakker
openaire   +1 more source

Becker's nevus syndrome: a report of a rare disease with unusual associations

International Journal of Dermatology, 2016
Sudip K, Ghosh   +2 more
openaire   +2 more sources

Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis.

Muscle & nerve, 1992
The rapid progress of research on the structure of the dystrophin gene has enormously increased our understanding of the molecular basis of Duchenne (DMD) and Becker (BMD) muscular dystrophy. Apart from "classical" clinical presentations, asymptomatic or only mildly affected individuals with deletions in the dystrophin gene have now been reported.
R, Gold   +5 more
openaire   +1 more source

COVID-19 in advanced Duchenne/Becker muscular dystrophy patients

Neuromuscular Disorders, 2021
Hagit Levine   +2 more
exaly  

[Dilated cardiomyopathy and lipid-lowering drug muscle toxicity revealing late-onset Becker's disease].

La Revue de medecine interne, 2006
The Becker's muscular dystrophy is a genetic myopathy due to mutations of the dystrophin gene, located in the Xp21 region, with a clinical expression usually occurring in young adults.We report an atypical case of late onset Becker's muscular dystrophy diagnosed at the age of 57.
M A, Vandenhende   +5 more
openaire   +1 more source

Becker muscular dystrophy with dilated cardiomyopathy: A case report

Clinical Case Reports (discontinued), 2021
Jianping Zeng
exaly  

Orphan Diseases – Das Becker-Naevus-Syndrom

Geburtshilfe und Frauenheilkunde, 2016
openaire   +1 more source

Becker Muscular Dystrophy in Pediatric Population: Diagnosis, Genetic Variability, and Disease Progression

Introdução: A distrofia muscular de Becker (DMB) é uma doença neuromuscular ligada ao cromossoma X, causada por variantes no gene DMD, manifestando-se por fraqueza muscular progressiva, miocardiopatia dilatada e défice cognitivo.   Objetivo: Caracterizar os doentes com DMB de um centro pediátrico de doenças neuromusculares.
Ribeiro, Mario   +4 more
openaire   +1 more source

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