| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8684429 | European Journal of Paediatric Neurology | 2018 | 12 Pages |
Abstract
The case highlights a very rare mechanism of inheritance for MFN2 mutations and expands the clinical and allelic variance of severe CMT2A phenotype. Moreover, it proposes the involvement of cerebellar peduncles observed at neuroimaging as a novel clue to suspect the diagnosis and address genetic testing.
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Authors
Giulia Iapadre, Giovanni Morana, Maria Stella Vari, Francesca Pinto, Paola Lanteri, Alessandra Tessa, Filippo Maria Santorelli, Pasquale Striano, Alberto Verrotti,