Selenoprotein N1 related myopathies (SEPN1-RM), including congenital muscular dystrophy with rigid spine (RSMD1), multiminicore disease (MmD), desmin-related myopathy with Mallory body-like inclusions and congenital fiber-type disproportion, are autosomal-recessive disorders caused by pathogenic variants in the SELENON gene. They are collectively characterized by early onset muscle weakness especially of the axial muscles, respiratory insufficiency often more severe and out of proportion to skeletal weakness, spinal rigidity and scoliosis.

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