Double Trouble from POLG1 and CLCN1 Variants with Intrafamilial Phenotypic Heterogeneity
Author:
Affiliation:
1. Rudolfstiftung Hospital, Messerli Institute Vienna Austria
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.12962
Reference5 articles.
1. “Twitching” and Stiffness in POLG1 Mutation Carriers: Red Flag or Red Herring?
2. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection
3. A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations
4. Mitochondrial DNA depletion in progressive external ophthalmoplegia caused byPOLG1mutations
5. The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review
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