Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

doi:10.1016/j.ajhg.2013.04.006

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Article

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

American journal of human genetics - 2 May 2013

Taft Ryan J, Vanderver Adeline, Leventer Richard J, Damiani Stephen A, Simons Cas, Grimmond Sean M, Miller David, Schmidt Johanna, Lockhart Paul J, Pope Kate, Ru Kelin, Crawford Joanna, Rosser Tena, de Coo Irenaeus F M, Juneja Monica, Verma Ishwar C, Prabhakar Prab, Blaser Susan, Raiman Julian, Pouwels Petra J W, Bevova Marianna R, Abbink Truus E M, van der Knaap Marjo S, Wolf Nicole I

Abstract excerpt

Inherited white-matter disorders are a broad class of diseases for which treatment and classification are both challenging. Indeed, nearly half of the children presenting with a leukoencephalopathy remain without a specific diagnosis. Here, we report on the application of high-throughput genome and exome sequencing to a cohort of ten individuals with a leukoencephalopathy of unknown etiology and clinically...

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Identifiers

PMID: 23643384
DOI: 10.1016/j.ajhg.2013.04.006
PMCID: PMC3644624

Genes

DARS2

Provenance

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Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.PMID 23643384Read ↗

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