Heterozygous exon 3 deletion in the Parkin gene in a patient with clinical and radiological MSA-C phenotype

Clin Neurol Neurosurg. 2011 Jun;113(5):404-6. doi: 10.1016/j.clineuro.2010.11.015. Epub 2010 Dec 22.

Authors

Orlando Graziani Povoas Barsottini¹, André Carvalho Felício, Patrícia de Carvalho Aguiar, Clécio Godeiro-Junior, Jose Luiz Pedroso, Camila Catherine Henriques de Aquino, Edson Bor-Seng-Shu, Luiz Augusto Franco de Andrade

Affiliation

¹ Instituto Israelita de Ensino e Pesquisa, Hospital Israelita Albert Einstein, Sao Paulo, Brazil.

PMID: 21183274
DOI: 10.1016/j.clineuro.2010.11.015

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Exons / genetics*
Female
Gene Deletion*
Heterozygote
Humans
Hypokinesia / etiology
Magnetic Resonance Imaging
Mesencephalon / diagnostic imaging
Multiple System Atrophy / genetics*
Multiple System Atrophy / psychology
Muscle Rigidity / etiology
Mutation / genetics
Neuropsychological Tests
Phenotype
Pons / pathology
Ubiquitin-Protein Ligases / genetics*
Ultrasonography, Doppler, Transcranial

Substances

Ubiquitin-Protein Ligases
parkin protein