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previously acquired skills.

Presentation

Cause

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene (PLA2G6) in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.

Pathophysiology

Mutations in the PLA2G6 gene have been identified in most individuals

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