Thenar and hypothenar muscle hypertrophy in Becker muscular dystrophy

D Renard, P Labauge - Neuromuscular Disorders, 2010 - nmd-journal.com
A 35-year-old man with genetically and immunohistochemically proven Becker muscular
dystrophy was seen for the first time in our centre on a neurological consultation. Clinical …

Carrier detection of Duchenne and Becker muscular dystrophy using muscle dystrophin immunohistochemistry

ASB Oliveira, AA Gabbai, B Schmidt… - Arquivos de neuro …, 1992 - SciELO Brasil
To ascertain whether dystrophin immunohistochemistry could improve DMD/BMD carrier
detection, we analyzed 14 muscle biopsies from 13 DMD and one BMD probable and …

Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2

N Witting, M Duno, J Vissing - Neuromuscular Disorders, 2013 - Elsevier
Becker muscular dystrophy features progressive proximal weakness, wasting and often focal
hypertrophy. We present a patient with pain and cramps from adolescence. Widespread …

Respiratory decline in adult patients with Becker muscular dystrophy: A longitudinal study

B De Wel, S Willaert, A Nadaj-Pakleza… - Neuromuscular …, 2021 - Elsevier
Becker muscular dystrophy (BMD) is a rare hereditary neuromuscular disease, caused by a
genetic defect in the Duchenne Muscular Dystrophy (DMD) gene. We studied the natural …

A novel mutation of dystrophin in a Becker muscular dystrophy family with severe cardiac involvement: From genetics to clinicopathology

L Chen, J Ren, X Chen, K Chen, M Rao, N Zhang… - Cardiovascular …, 2018 - Elsevier
Background Dystrophin gene defects are the pathogenic molecular basis of Becker
muscular dystrophy (BMD), characterised by skeletal myopathy and cardiomyopathy …

Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy

P Melacini, M Fanin, GA Danieli, C Villanova… - Circulation, 1996 - Am Heart Assoc
Background Several cases of Becker's muscular dystrophy (BMD) have been reported,
which showed mild or subclinical skeletal muscle involvement with an overt dilated …

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies

Z Xie, C Liu, H Yu, Z Xie, C Sun, Y Zhu, X Hu… - Orphanet Journal of …, 2024 - Springer
Background Pathogenic missense variants in the dystrophin (DMD) gene are rarely reported
in dystrophinopathies. Most DMD missense variants are of uncertain significance and their …

Serum creatinine as a biomarker for dystrophinopathy: a cross-sectional and longitudinal study

L Wang, M Xu, D Liu, Y Liang, P Feng, H Li, Y Zhu… - BMC neurology, 2021 - Springer
Background Dystrophinopathy, a common neuromuscular disorder, includes Duchenne
muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Many researches are …

Abnormal dystrophin expression in patients with limb girdle syndromes

S Beyenburg, S Zierz, K Arahata, RR Mundegar… - Journal of …, 1994 - Springer
Clinical differential diagnosis between Becker muscular dystrophy (BMD) and limb gridle
muscular dystrophy (LGMD) may be difficult because the BMD clinical phenotype tends to …

Exonization of an intronic LINE-1 element causing becker muscular dystrophy as a novel mutational mechanism in dystrophin gene

A Gonçalves, J Oliveira, T Coelho, R Taipa… - Genes, 2017 - mdpi.com
A broad mutational spectrum in the dystrophin (DMD) gene, from large
deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy …