TY - JOUR
T1 - Congenital encephalomyopathy with epilepsy, chorioretinitis, basal ganglia involvement, and muscle minicores
AU - Avoni, Patrizia
AU - Monari, Lucia
AU - Carelli, Valerio
AU - Carcangiu, Roberta
AU - Barboni, Piero
AU - Donati, Catia
AU - Badiali, Lucilla
AU - Baruzzi, Agostino
AU - Montagna, Pasquale
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
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U2 - 10.1002/1531-8249(200003)47:3<395::AID-ANA21>3.0.CO;2-C
DO - 10.1002/1531-8249(200003)47:3<395::AID-ANA21>3.0.CO;2-C
M3 - Article
C2 - 10716265
AN - SCOPUS:0034008194
VL - 47
SP - 395
EP - 399
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 3
ER -