Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility
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DOI: 10.1002/mdc3.12839
Abstract: We describe a fertile patient presenting a Huntington-like disorder, normal peripheral nerve conduction, and atypical magnetic resonance imaging (MRI) findings who harbored 2 novel mutations in RING Finger Protein 216 (RNF216). A 44-year-old woman developed… read more here.
Keywords: protein 216; associated ataxia; novel mutations; ring finger ... See more keywords