نتایج جستجو برای: merzbacher
تعداد نتایج: 317 فیلتر نتایج به سال:
Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy that typically presents during the neonatal or early infantile period with nystagmus, commonly associated hypotonia, delayed acquisition of motor milestones, speech delay and dysarthria. We present 7-year-old female born to nonconsanguineous marriage developmental delay. On examination, she had 22 teeth, nystagmu...
Dört Aileden Pelizaeus-Merzbacher Sendromlu Altı Hastanın Klinik ve Moleküler Sitogenetik Analizleri
Objective: Pelizaeus-Merzbacher Disease is a rare X-linked recessive leukodystrophy caused by mutation in the proteolipid protein (PLP) gene on chromosome Xq22. PMD an early-onset neurological disorder characterized nystagmus, spastic quadriplegia, ataxia, and developmental delay. Genetic analysis has identified Xq22 microduplications (60-70%), point mutations (10–25%), deletions (5-10%) within...
BACKGROUND AND PURPOSE Pelizeaus-Merzbacher disease (PMD) is a clinically and molecularly heterogeneous disorder linked to deletion, mutations, or duplication of the proteolipid protein (PLP1) gene locus at Xq22. The current study was conducted to characterize the results of proton MR spectroscopic (MRS) imaging in PMD. METHODS Three boys with PMD (one with the severe connatal form and two wi...
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