Muscle MRI findings in patients with limb girdle muscular.
Duchenne muscular dystrophy (DMD), is a life-limiting X-linked recessive neuromuscular disorder primarily affecting boys, with an incidence of 1 in 3,500-5,000 live male births, making it the most prevalent muscular dystrophy of childhood in boys (1). DMD is caused by mutations in the dystrophin gene, leading in most cases to complete absence of the dystrophin protein, a cytoskeleton protein.
Conversely, according to a review by Straub, et al. there are several research issues that need to be targeted, the rareness of the disease, our poor understanding of the mechanism of LGMD2, and absence of patient cohorts, consequently biomarkers for individuals with LGMD2 are lacking.
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Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal-recessive disorder characterized by selective atrophy and progressive weakness of proximal girdle muscles. LGMD2A, the most.
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