Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype.
Adrienne ElbertKatherine DixonYaoqing ShenSara HamiltonElizabeth M J LeeSteven J JonesAnish K KanungoPublished in: Neurology. Genetics (2023)
can result in a spectrum of phenotypes including cerebellar ataxia with cerebellar-pontine atrophy in the absence of significant neuropathy and in a manner closely resembling MSA-C.
Keyphrases