CONGENITAL MYOPATHIES 1 – NEMALINE

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Actinopathies are congenital myopathies resulting from mutations in the ACTA1 gene encoding skeletal α-actin. ACTA1 mutations are the etiology for 15-30% of nemaline myopathies and approximately 50% of severe cases. The phenotypic spectrum is wide, with the most severely affected patients presenting with evidence of prenatal onset of disease and mildly affected subjects presenting first symptoms in adulthood. This retrospective study of patients with causative mutations in the ACTA1 gene was performed at a single center.

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