Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy

We report on a 36-year-old man with cerebellar-extrapyramidal syndrome and severe heart failure because of dilated cardiomyopathy of unknown origin. Dysarthria and cardiac arrhythmia began at early childhood (4 years of age). Brain MRI (28 years of age) demonstrated severe cerebellar atrophy. At the...

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Detalles Bibliográficos
Autores principales: Ługowska, Agnieszka, Purzycka-Olewiecka, Joanna K., Płoski, Rafał, Truszkowska, Grażyna, Pronicki, Maciej, Felczak, Paulina, Śpiewak, Mateusz, Podlecka-Piętowska, Aleksandra, Sitek, Martyna, Bilińska, Zofia T., Leszek, Przemysław, Bednarska-Makaruk, Małgorzata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8779458/
https://www.ncbi.nlm.nih.gov/pubmed/35054396
http://dx.doi.org/10.3390/life12010003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8779458/
https://www.ncbi.nlm.nih.gov/pubmed/35054396
http://dx.doi.org/10.3390/life12010003

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