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  2. Hypomyelination with brainstem and spinal cord involvement and leg spasticity

Hypomyelination with brainstem and spinal cord involvement and leg spasticity

Definition:

Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is characterized by focal cerebral white matter abnormalities and spinal cord signal abnormalities. HBSL is the result of mutations in DARS, a cytoplasmic tRNA synthetase gene.

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