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We retrospectively evaluated the imaging spectrum of Pelizaeus–Merzbacher disease (PMD) in correlation with the clinical course and genetic abnormality.We collected the magnetic resonance imaging (MRI) findings of 19 genetically proven PMD patients (all males, aged 0–29years old) using our integrated web-based MRI data collection system from 14 hospitals. The patterns of hypomyelination were determined...
To determine the epidemiological, clinical, and genetic characteristics of congenital hypomyelinating leukodystrophies, including Pelizaeus–Merzbacher disease (PMD), we conducted a nationwide epidemiological survey in Japan. A two-step survey targeting all medical institutions specializing in pediatric neurology and childhood disability (919 institutes) in Japan was performed. Detailed information...
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