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Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms.
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Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms.
Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms. Neurology. 2011 Sep 13; 77(11):1055-60.
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PubMed
subject areas
Ataxins
Autonomic Nervous System Diseases
Child, Preschool
Fatal Outcome
Female
Humans
Infant
Male
Nerve Tissue Proteins
Phenotype
Post-Synaptic Density
Retinitis Pigmentosa
Retrospective Studies
Severity of Illness Index
Spasms, Infantile
Trinucleotide Repeat Expansion
authors with profiles
Christopher M. Gomez