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Article

SEC31A mutation affects ER homeostasis, causing a neurological syndrome

21 Nov 2018

Abstract excerpt

Background Consanguineous kindred presented with an autosomal recessive syndrome of intrauterine growth retardation, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness and optic nerve atrophy with no eye fixation. Affected individuals died by the age of 4. Brain MRI demonstrated microcephaly,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30464055
DOI: 10.1136/jmedgenet-2018-105503

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