scholarly journals Sodium nitrate alleviates functional muscle ischaemia in patients with Becker muscular dystrophy

2015 ◽  
Vol 593 (23) ◽  
pp. 5183-5200 ◽  
Author(s):  
Michael D. Nelson ◽  
Ryan Rosenberry ◽  
Rita Barresi ◽  
Evgeny I. Tsimerinov ◽  
Florian Rader ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Sodium Nitrate ◽  
Becker Muscular Dystrophy ◽  
Muscle Ischaemia

Prenatal diagnosis of Duchenne and Becker muscular dystrophy by multiplex ligation-dependent probe amplification

2009 ◽  
Vol 31 (6) ◽  
pp. 600-604
Author(s):  
Qian WANG ◽  
Chun-Lian JIN ◽  
Chang-Kun LIN ◽  
Wan-Ting CUI ◽  
Hong-Wei MA ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Becker Muscular Dystrophy ◽  
Dependent Probe

Prenatal diagnosis of two co-occurring genetic conditions: FOGX1 contiguous deletion and Becker Muscular Dystrophy

2021 ◽  
Vol 132 ◽  
pp. S309-S310
Author(s):  
Natalie Burrill ◽  
Beverly Coleman ◽  
Sonika Agarwal ◽  
Julie Moldenhauer ◽  
Nahla Khalek
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Becker Muscular Dystrophy

scholarly journals Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report

2019 ◽  
Vol 3 (3) ◽  
Author(s):  
Paola Dolader ◽  
Ella Field ◽  
Anna Sarkozy ◽  
Juan Pablo Kaski
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Muscular Dystrophy ◽  
Neuromuscular Disorders ◽  
Elevated Serum ◽  
Becker Muscular Dystrophy ◽  
Neuromuscular Disorder ◽  
Chain Gene ◽  
Septal Hypertrophy ◽  
History Of ◽  
Myocardial Involvement

Abstract Background  Becker muscular dystrophy (BMD) is a neuromuscular disorder associated with myocardial involvement. The most frequent presentation is dilated cardiomyopathy. There have been isolated reports of hypertrophic cardiomyopathy (HCM) in association with BMD, but it is unclear whether these patients had an additional aetiology. Case summary  A 10-year-old boy was diagnosed with BMD having presented with a history of muscular pain during exercise and elevated serum creatine kinase levels. A cardiac screening was arranged and the echocardiogram confirmed an asymmetric septal hypertrophy. Given the unusual finding of HCM in this patient with BMD, we performed genetic testing for HCM-causing mutations and identified a likely pathogenic variant in heterozygosis in the beta-myosin heavy chain gene. Discussion  This case highlights the importance of considering additional aetiologies of cardiac disease in the presence of infrequent phenotypic expressions in neuromuscular disorders.

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