Article
Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations.
Tremor and other hyperkinetic movements (New York, N.Y.) - 13 Aug 2020
Millar Vernetti Patricio, Rossi Malco, Merello Marcelo
Abstract excerpt
Background: Parkin mutations are suspected in early-onset Parkinson's disease with early motor complications, and in pedigrees showing an autosomal recessive pattern. Some compound heterozygous mutations can present with various uncommon phenotypes. Case Report: Two siblings with the same mutations, one with atypical postural and action tremor, and the other with an axonal motor autonomic neuropathy. A woman with...
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