ACTA1-myopathy With Prominent Finger Flexor Weakness and Rimmed Vacuoles


Mutations in the skeletal muscle sarcomeric α-actin 1-encoding gene (ACTA1) cause autosomal dominant or less commonly recessive congenital myopathies with a wide range of clinical phenotypes and pathological findings [1]. Weakness generally occurs prior to teenage years, but adult-onset weakness has been reported [1]. The pattern of weakness varies from limb-girdle, scapuloperoneal [2] to the recently described distal phenotype [3]. Muscle biopsy may show classic nemaline rods or less commonly actin filament aggregates, caps, cores, fiber type disproportion, myofibrillar pathology, or zebra bodies [3].


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