Table 1.

Clinical and laboratory characteristics of patients

Clinical phenotype	Percentage (%)
Developmental delay	53
Abnormal RCC enzymes activity	21
Abnormal muscle biopsy	15
Hypotonia	30
Seizures	28
Gastrointestinal dysmotility	26
Fatigue/exercise intolerance	17
Neuropathy	8
Ataxia	7
Dystonia	4