Cargando…
Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant
Case series Patients: — Final Diagnosis: Hereditary spastic paraplegia type 4 Symptoms: Progressive psychomotor deterioration • mixed seizure patterns • corneal opacity • dysostotic bones • limb spasticity with extensor plantar responses • axial hypotonia Medication: — Clinical Procedure: Phenotype-...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
International Scientific Literature, Inc.
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249741/ https://www.ncbi.nlm.nih.gov/pubmed/32389998 http://dx.doi.org/10.12659/AJCR.919463 |