Menkes Disease with ‘Ragged Red’ Fibers

Abstract

Subsarcolemmal aggregates of mitochondria (‘ragged red’ fibers) in skeletal muscle were found at autopsy in a 30-month-old male infant with Menkes kinky-hair disease reported from the New York Hospital-Cornell University Medical Center, New York.

Keywords

• skeletal muscle
• vertical nystagmus
• plasma copper