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Article

Identification and analyses of exonic and copy number variants in spastic paraplegia.

Scientific reports - 21 Jun 2024

Shafique Anum, Nadeem Ayesha, Aslam Faiza, Manzoor Humera, Noman Muhammad, Wohler Elizabeth, Witmer P Dane, Sobreira Nara, Naz Sadaf

Abstract excerpt

Hereditary spastic paraplegias are a diverse group of degenerative disorders that are clinically categorized as isolated; with involvement of lower limb spasticity, or symptomatic, where spastic paraplegia is complicated by further neurological features. We sought to identify the underlying genetic causes of these disorders in the participating patients. Three consanguineous families with multiple affected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38906889
DOI: 10.1038/s41598-024-64922-8
PMCID: PMC11192879

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