Congenital encephalomyopathy with epilepsy, chorioretinitis, basal ganglia involvement, and muscle minicores

Patrizia Avoni; Lucia Monari; Valerio Carelli; Roberta Carcangiu; Piero Barboni; Catia Donati; Lucilla Badiali; Agostino Baruzzi; Pasquale Montagna

doi:10.1002/1531-8249(200003)47:3<395::AID-ANA21>3.0.CO;2-C

Congenital encephalomyopathy with epilepsy, chorioretinitis, basal ganglia involvement, and muscle minicores

Patrizia Avoni, Lucia Monari, Valerio Carelli, Roberta Carcangiu, Piero Barboni, Catia Donati, Lucilla Badiali, Agostino Baruzzi, Pasquale Montagna

Istituto Scienze Neurologiche

Research output: Contribution to journal › Article › peer-review

Abstract

A woman had severe psychomotor retardation, epilepsy, rigidity, and chorioretinitis. Magnetic resonance imaging showed cerebellar and cerebral atrophy and hypointensities in T2-weighted images of the thalami and basal ganglia. Muscle biopsy documented size variations in rounded muscle fibers, fibrosis, and minicores on electron microscopy. Merosin staining was normal. These hitherto unreported features do not permit classification of our patient within the current types of encephalomyopathy and congenital muscular dystrophies.

Original language	English
Pages (from-to)	395-399
Number of pages	5
Journal	Annals of Neurology
Volume	47
Issue number	3
DOIs	https://doi.org/10.1002/1531-8249(200003)47:3<395::AID-ANA21>3.0.CO;2-C
Publication status	Published - 2000

ASJC Scopus subject areas

Neuroscience(all)

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10.1002/1531-8249(200003)47:3<395::AID-ANA21>3.0.CO;2-C

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Congenital encephalomyopathy with epilepsy, chorioretinitis, basal ganglia involvement, and muscle minicores. / Avoni, Patrizia; Monari, Lucia; Carelli, Valerio; Carcangiu, Roberta; Barboni, Piero; Donati, Catia; Badiali, Lucilla; Baruzzi, Agostino; Montagna, Pasquale.

In: Annals of Neurology, Vol. 47, No. 3, 2000, p. 395-399.

Research output: Contribution to journal › Article › peer-review

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AU - Barboni, Piero

AU - Donati, Catia

AU - Badiali, Lucilla

AU - Baruzzi, Agostino

AU - Montagna, Pasquale

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