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Article

MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia.

Molecular genetics and genomics : MGG - 1 Jul 2022

Selçuk Ece, Kırımtay Koray, Temizci Benan, Akarsu Şeyma, Everest Elif, Baslo Mehmet Barış, Demirkıran Meltem, Yapıcı Zuhal, Karabay Arzu

Abstract excerpt

In this study, we aimed to determine the genetic basis of a Turkish family related to hereditary spastic paraplegia (HSP) by exome sequencing. HSP is a progressive neurodegenerative disorder and displays genetic and clinical heterogeneity. The major symptoms are muscle weakness and spasticity, especially in the lower extremities. We studied seven affected and seven unaffected family members, as well as a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35704118
DOI: 10.1007/s00438-022-01910-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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