Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14
Spinocerebellar ataxia type 14 is a rare form of autosomal dominant cerebellar ataxia caused by mutations in protein kinase Cγ gene. Clinically, it presents with a slowly progressive, mainly pure cerebellar ataxia.Using next generation sequencing, we screened 194 families with autosomal dominant cer...
| Main Authors: | , , , , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Wiley
2018
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