Intrafamilial variability and clinical heterogeneity in a family with -associated neurodegeneration
Phospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN) is an autosomal recessive neurodegenerative disease with a wide clinical spectrum; however, the genotype-phenotype correlation is unknown. Here, we report different phenotypes in one family with the same genotype. A 28-year-old m...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sungkyunkwan University School of Medi
2019-09-01
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| Series: | Precision and Future Medicine |
| Subjects: | |
| Online Access: | http://www.pfmjournal.org/upload/pdf/pfm-2019-00086.pdf |