Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients
Objectives. Leigh syndrome is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or basal ganglia disease, lactic acidosis, and characteristic magnetic resonance imaging findings. At molecular level, deficiency of respiratory...
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| Autores principales: | , , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Sciendo
2018
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/c3a5d74663da4074a500d9fb9564ea9d |
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