| Main clinical features
|
age at onset from 1 to 6 years, with difficulty in walking and climbing stairs, slow progression, proximal muscle weakness, mild muscle hypertrophy, increased serum creatine kinase, microcephaly, and mental retardation (IQ range 50 to 76)
brain imaging was normal with no structural abnormalities or white matter changes; skeletal muscle biopsy showed dystrophic changes, including mild fibrosis with many regenerating and few necrotic fibers, increased fiber size variability, and multiple central nuclei
associated with cardiomyopathy in any cases (PMID: 2549409) |