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Titolo:
C4342T-MUTATION IN THE SCN4A GENE ON CHROMOSOME 17Q IN A SWEDISH FAMILY WITH PARAMYOTONIA-CONGENITA (EULENBURG) - CORRELATIONS WITH CLINICAL, NEUROPHYSIOLOGICAL AND MUSCLE BIOPSY DATA
Autore:
BORG K; AHLBERG G; ANVRET M;
Indirizzi:
KAROLINSKA HOSP,DEPT NEUROL S-17176 STOCKHOLM SWEDEN KAROLINSKA HOSP,DEPT CLIN GENET S-10401 STOCKHOLM SWEDEN
Titolo Testata:
Neuromuscular disorders
fascicolo: 4, volume: 7, anno: 1997,
pagine: 231 - 233
SICI:
0960-8966(1997)7:4<231:CITSGO>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
SKELETAL-MUSCLE; CHANNEL DISEASES; SODIUM;
Keywords:
PARAMYOTONIA CONGENITA; MUSCLE BIOPSY; SCN4A GENE; PCR TECHNIQUE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
10
Recensione:
Indirizzi per estratti:
Citazione:
K. Borg et al., "C4342T-MUTATION IN THE SCN4A GENE ON CHROMOSOME 17Q IN A SWEDISH FAMILY WITH PARAMYOTONIA-CONGENITA (EULENBURG) - CORRELATIONS WITH CLINICAL, NEUROPHYSIOLOGICAL AND MUSCLE BIOPSY DATA", Neuromuscular disorders, 7(4), 1997, pp. 231-233

Abstract

Genetic analysis of the adult muscle sodium channel a-subunit, SCN4A gene on chromosome 17q, was performed by means of PCR technique in a Swedish family with paramyotonia congenita (Eulenburg) (PMC). The mutation was found in four family members and consisted of a C to T transition affecting the fourth domain of the sodium channel protein. This mutation has earlier been described in other families with paramyotonia congenita. All family members carrying the mutation had cold-induced paradoxical myotonia, myotonic bursts on EMG, and a type IIB atrophy onmuscle biopsy. Three of them had slight CK elevation and two had episodes of paralysis. On the basis of clinical findings in this family, persistent proximal muscle weakness, myopathic EMG abnormalities, a type IIB atrophy on muscle biopsy and no symptoms but other signs of muscle affection, were earlier suggested as clinical features of PMC. However, genetic analysis revealed that family members with these symptomsand findings did not have the mutation, indicating that these features are not due to PMC. (C) 1997 Elsevier Science B.V.

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Documento generato il 29/09/20 alle ore 19:54:44