Rare intronic mutation between Exon 62 and 63 (c.9225-285A > G) of the dystrophin gene associated with atypical BMD phenotype: a case report

X-linked dystrophinopathies represent the most common pediatric muscular disorders. These include Duchenne muscular dystrophy (DMD; incidence 1:3800 –6000 live male births), Becker muscular dystrophy (BMD; 1:15000), and a rare X-linked dilated cardiomyopathy (1, 2). Whereas DMD is associated with a rapidly progressive loss of muscular function, with symptoms onset at 3–5 years old, and loss of ambulation at 9-11 years old, BMD is clinically less severe. Affected males remain ambulatory beyond the age of 16 (2).

Source: Neuromuscular Disorders - June 9, 2020 Category: Neurology Authors: SC Sch üssler, T Gerhalter, A Abicht, W Müller-Felber, AM Nagel, R Trollmann Source Type: research