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Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report
RATIONALE: Pantothenate kinase-associated neurodegeneration (PKAN) represents an autosomal recessive hereditary disease. In this report, a PANK2 gene mutation in a Chinese child was identified, as well as detections of PKAN among his family members. Our findings exposed a world-wide novel compound h...
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| Veröffentlicht in: | Medicine (Baltimore) |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Wolters Kluwer Health
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5908570/ https://ncbi.nlm.nih.gov/pubmed/29642163 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000010316 |
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