,:

L G Ramanzini1, J M Frare2, T F Lopes1

  • 1Medical School, Department of Neuropsychiatry, Center of Health Sciences, Federal University of Santa Maria (UFSM), Santa Maria, Brazil.

概括

皮利塞乌斯-默兹巴赫氏样性疾病 (PMLD) 是一种罕见的遗传疾病,导致发育延迟和低髓化. 诊断涉及GJC2基因变异,将其与PMD区分开来,并提供更好的预后.