Teaching NeuroImages: Leigh-like features expand the picture of PMPCA-related disorders

Neurology. 2019 Jan 8;92(2):e168-e169. doi: 10.1212/WNL.0000000000006740.

Authors

Anna Rubegni¹, Rosa Pasquariello¹, Claudia Dosi¹, Guja Astrea¹, Raffaello Canapicchi¹, Filippo M Santorelli², Claudia Nesti¹

Affiliations

¹ From Molecular Medicine & Neurogenetics (A.R., C.D., F.M.S., C.N.), Neuroradiology (R.P., R.C.), and Child Neurology (G.A.), IRCCS Fondazione Stella Maris, Pisa, Italy.
² From Molecular Medicine & Neurogenetics (A.R., C.D., F.M.S., C.N.), Neuroradiology (R.P., R.C.), and Child Neurology (G.A.), IRCCS Fondazione Stella Maris, Pisa, Italy. filippo3364@gmail.com.

PMID: 30617178
DOI: 10.1212/WNL.0000000000006740

No abstract available

Publication types

Case Reports

MeSH terms

Child
Corpus Striatum / diagnostic imaging
Humans
Leigh Disease / diagnostic imaging*
Leigh Disease / genetics*
Magnetic Resonance Imaging
Male
Metalloendopeptidases / genetics*
Mitochondrial Processing Peptidase
Mutation / genetics*

Substances

Metalloendopeptidases