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四肢近端肌肉和...、共济失调、眼球震颤
Pelizaeus-Merzbacher disease is X-linked hypomyelinating leukodystrophy; PLP1 duplication; infant boys; nystagmus; developmental delay; hypotonia; children; supportive; pediatric neurology/genetics.
Nystagmus; developmental delay; hypotonia; infant boys; X-linked; PLP1; supportive
PLP1 duplication/mutation; X-linked; PMD; hypomyelination; boy.
Supportive; PT/OT; pediatric neurology/genetics; no cure
Pediatric neurology / pediatrics / medical genetics.
Warm reminder: Health education reference only; seek care at regular hospital.
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