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Article

A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans.

European journal of human genetics : EJHG - 1 Jun 2023

Manzoor Humera, Zahid Hafsa, Emerling Christopher A, Kumar Kishore R, Hussain Hafiz Muhammad Jafar, Seo Go Hun, Wajid Muhammad, Naz Sadaf

Abstract excerpt

Neuromuscular disorders encompass a broad range of phenotypes and genetic causes. We investigated a consanguineous family in which multiple patients had a neuromuscular disorder characterized by a waddling gait, limb deformities, muscular weakness and facial palsy. Exome sequencing was completed on the DNA of three of the four patients. We identified a novel missense variant in DCAF13, ENST00000612750.5,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36797467
DOI: 10.1038/s41431-023-01319-7
PMCID: PMC10250411

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