Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype
Adrienne Elbert,
Katherine Dixon,
Yaoqing Shen
et al.
Abstract:Objectives
To investigate the etiology of cerebellar ataxia in an adult male patient.
Methods
We performed standard neurologic assessment and genome sequencing of a 62-year-old man with rapidly progressive balance and gait abnormalities.
Results
The propositus exhibited cognitive dysfunction, mild appendicular bradykinesia, prominent appendicular ataxia, dysarthria, and hypomimia with minimal dysautonomic symptoms. Nerve conduction studies sh… Show more
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