Article

A Heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy

2025-01-10

Abstract excerpt

We report a family affected with childhood onset distal muscle weakness with a heterozygous chromosome 9q34 deletion encompassing the SPTAN1 gene. The deletion was detected through exome-sequencing based copy number variant detection, segregates in four patients and is non-penetrant in two other relatives. Electromyography, muscle MRI and muscle biopsy revealed a myopathic disease phenotype. Cellular consequences...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 612904d8-b8de-53f7-a8cf-90b6c50d9708
DOI: 10.1101/2025.01.09.24319154

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathyDOI 10.1101/2025.01.09.24319154Read

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic featuresSemantic proximity Read

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathySemantic proximity Read

Heterozygous variants in SPTBN1 cause intellectual disability and autism.Semantic proximity Read

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.Semantic proximity Read

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.Semantic proximity Read

Pathogenic <i>SPTBN1</i> variants cause a novel autosomal dominant neurodevelopmental syndromeSemantic proximity Read

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.Semantic proximity Read

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.Semantic proximity Read

Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability.Semantic proximity Read

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.Semantic proximity Read

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1.Semantic proximity Read

Clinically Discordant Siblings with Spinal Muscular Atrophy: Insights from Patient-Specific iPSC-Derived Motor Neurons and Literature ReviewSemantic proximity Read