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Article

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.

Pediatric neurology - 1 Feb 2015

Punetha Jaya, Monges Soledad, Franchi Maria Emilia, Hoffman Eric P, Cirak Sebahattin, Tesi-Rocha Carolina

Abstract excerpt

BACKGROUND: Molecular diagnosis of the distal spinal muscular atrophies or distal hereditary motor neuropathies remains challenging because of clinical and genetic heterogeneity. Next generation sequencing offers potential for identifying de novo mutations of causative genes in isolated cases. PATIENT DESCRIPTION: We present a 3.6-year-old girl with congenital scoliosis, equinovarus, and L5/S1 left hemivertebra...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25484024
DOI: 10.1016/j.pediatrneurol.2014.09.003
PMCID: PMC4351714

Genes

SMN1

Variants

Provenance

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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Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.PMID 25484024Read ↗

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