Abstract:Objective: To report an interesting case of Nemaline Myopathy type 3 with alpha-actin1 (ACTA1) mutation.
Background: Nemaline myopathy (NM) is a rare congenital neuromuscular disorder that presents with facial weakness, bulbar symptoms, generalized muscle weakness, delayed motor development, hypotonia, and the diagnostic presence of rod-like structures in skeletal muscle biopsy. Currently, eleven different genetic mutations are associated with NM. Dominant and recessive mutations in the α-actin1 (ACTA1) … Show more
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