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Article

A novel homozygous KY variant causing a complex neurological disorder.

European journal of medical genetics - 1 Nov 2020

Arif Beenish, Rasheed Arisha, Kumar Kishore R, Fatima Amara, Abbas Ghazanfar, Wohler Elizabeth, Sobriera Nara, Lohmann Katja, Naz Sadaf

Abstract excerpt

Mutations in the gene kyphoscoliosis peptidase (KY) are known to cause myofibrillar myopathy-7 and hereditary spastic paraplegia. We investigated the genetic cause of a complex neurological phenotype in a consanguineous Pakistani family with four affected members, manifesting lower limb spasticity and weakness, toe walking, pes equinovarus, and a speech disorder. Genome-wide linkage analysis with microsatellite...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32818658
DOI: 10.1016/j.ejmg.2020.104031
PMCID: PMC7554104

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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