Nemaline myopathy caused by absence of α-skeletal muscle actin

Objective To investigate seven congenital myopathy patients from six families: one French Gypsy, one Spanish Gypsy, four British Pakistanis, and one British Indian. Three patients required mechanical ventilation from birth, five died before 22 months, one is ventilator‐dependent, but one, at 30 months, is sitting with minimal support. All parents were unaffected. Methods The α‐skeletal muscle actin gene (ACTA1) was sequenced. Available muscle...