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Titolo:
A CLINICAL-STUDY OF CHILDHOOD SPINAL MUSCULAR-ATROPHY IN SICILY - A REVIEW OF 75 CASES
Autore:
PARANO E; FIUMARA A; FALSAPERLA R; PAVONE L;
Indirizzi:
UNIV CATANIA,PEDIAT CLIN,DIV PEDIAT NEUROL,V A DORIA 6 I-95125 CATANIA ITALY
Titolo Testata:
Brain & development
fascicolo: 2, volume: 16, anno: 1994,
pagine: 104 - 107
SICI:
0387-7604(1994)16:2<104:ACOCSM>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
GENE FREQUENCY; POPULATION;
Keywords:
SPINAL MUSCULAR ATROPHY; SMA; MOTOR NEURON DISEASE; NEUROMUSCULAR DISORDER; ELECTROMYOGRAPHY; MUSCLE BIOPSY; HYPOTONIA; FLOPPY INFANT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
16
Recensione:
Indirizzi per estratti:
Citazione:
E. Parano et al., "A CLINICAL-STUDY OF CHILDHOOD SPINAL MUSCULAR-ATROPHY IN SICILY - A REVIEW OF 75 CASES", Brain & development, 16(2), 1994, pp. 104-107

Abstract

The aim of this study is to evaluate 75 patients affected by childhood-onset spinal muscular atrophy (SMA), using the diagnostic criteria and classification recently suggested by the International SMA Collaboration Consortium. Sex predominance, age of onset, clinical evaluation and other relevant clinical data of the disease are reported. These findings, as well as the role of the EMG and muscle biopsy as diagnostictools, are discussed. The study suggests that the frequency of SMA insome areas of Sicily is high, possibly correlating with a relatively high gene frequency.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 09:01:41