| Remarks |
Clinically affected; diagnosed via muscle biopsy at 3 years of age; examination at 3 years of age revealed hypotonia and absence of deep tendon reflexes - CK, EMG, and MRI of brain and cervical spine were normal; fatigues after walking for a long time and has trouble going up stairs; muscle biopsy revealed that muscle is almost entirely composed of type 1 myofibers, and they exhibit central unstained cores - suggesting congenital myopathy morphologically consistent with central core disease; mother is GM26164 and father is GM26165 (affected status for both parents is unknown). |