Early Infantile Leigh-like Gene Defects Have a Poor Prognosis: Report and Review
Solute carrier family 19 (thiamine transporter), member 3 ( SCL19A3 ) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early inf...
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2017-10-01
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| Series: | Journal of Central Nervous System Disease |
| Online Access: | https://doi.org/10.1177/1179573517737521 |