क्यूआर कोड

New variant in PLP1 gene associated with X-linked spastic paraplegia type 2: First report of a family in Colombia

Hereditary spastic paraplegias are genetic disorders characterized by spasticity in the lower limbs, weakness, and sensory disturbances. Global prevalence ranges from 1.27 to 9.6 per 100 000 individuals. Mutations in the PLP1 gene cause various X-linked hereditary spastic paraplegias phenotypes, inc...

पूर्ण विवरण

में बचाया:
मुख्य लेखकों: Nicolás Laverde-Sudupe, Ángela Lizeth Giraldo-Serna, Diana Ramírez-Montaño, Julián Ramírez-Cheyne, Wilmar Saldarriaga-Gil
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Instituto Nacional de Salud 2026-06-01
श्रृंखला:Biomédica: revista del Instituto Nacional de Salud
विषय:
spastic paraplegia
hereditary
pelizaeus-merzbacher disease
ऑनलाइन पहुंच:https://revistabiomedica.org/index.php/biomedica/article/view/7733
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