lead to muscular dystrophies: Duchenne/Becker dystrophy, associated to dystrophin protein defects, congenital dystrophy, due to laminin-2 absence, and sarcoglycanopathies, a subset of limb-girdle muscular dystrophies (LGMD) related to deficiency of the sarcoglycans (Straub & Campbell, 1997). Mutations in the α-sarcoglycan gene (Sgca), causing the lack or alterations of the protein, are responsi...

INTRODUCTION Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA). METHODS The attitudes toward NBS for DMD, BMD, ...

Background Becker muscular dystrophy (BMD) is allelic with Duchenne muscular dystrophy and represents a milder skeletal muscle phenotype; however, cardiac dysfunction remains a significant clinical problem. Cardiac involvement in BMD precedes skeletal muscular decline, and cardiomyopathy often leads to death before the age of 60 years. Cardiac magnetic resonance (CMR) is used for ventricular fu...

Background Duchenne (DMD) and Becker (BMD) muscular dystrophy (MD) are inherited X-linked disease characterized by progressive skeletal muscle degeneration and myocardial involvement and caused by a mutation on dystrophin gene (Xp21). Dystrophin is a sarcolemal protein that links the cytoskeleton to the basal lamina and is essential for maintenance of the muscular membrane integrity during musc...

The hereditary Thiel-Behnke corneal dystrophy, first described in 1967, is frequently confused with Reis-Bucklers dystrophy. Both conditions affect Bowman’s layer and can be difficult to differentiate both clinically and histopathologically. Previously, electron microscopic studies of corneal dystrophies affecting Bowman’s layer identified characteristic ‘‘curly fibres,’’ but it was unclear whe...