Molecular genetics of the X-linked muscular dystrophies

Molecular basis of muscular dystrophies.

Muscular dystrophies represent a heterogeneous group of disorders, which have been largely classified by clinical phenotype. In the last 10 years, identification of novel skeletal muscle genes including extracellular matrix, sarcolemmal, cytoskeletal, cytosolic, and nuclear membrane proteins has changed the phenotype-based classification and shed new light on the molecular pathogenesis of these...

molecular diagnosis of limb girdle muscular dystrophies

limb girdle muscular dystrophies (lgmds) are group of neuromuscular disorders which are characterized by progressive muscle weakness and they mostly affect the pelvic and shoulder girdle muscles. this disease can be inherited as autosomal dominant (lgmd1) and autosomal recessive (lgmd2). so far seven autosomal dominant and 20 autosomal recessive forms of this disease have been recognized reflec...

Molecular genetics of macular dystrophies.

Macular dystrophies represent a heterogeneous group of disorders spanning a broad spectrum of clinical, histopathological, and laboratory findings. Despite this variability, funduscopic changes involving the macula and retinal pigment epithelium (RPE) and clinically significant loss of central or functional vision are characteristic of these disorders. As a group of diseases with a strong genet...

Advances in Molecular Analysis of Muscular Dystrophies

Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever Model

Duchenne muscular dystrophy (DMD) is a devastating disease that dramatically decreases the lifespan and abilities of affected young people. The primary molecular cause of the disease is the absence of functional dystrophin protein, which is critical to proper muscle function. Those with DMD vary in disease presentation and dystrophin mutation; the same causal mutation may be associated with dra...