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Titolo:
Congenital myopathy with central cores and fingerprint bodies in association with malignant hyperthermia susceptibility
Autore:
Stojkovic, T; Maurage, CA; Moerman, A; Hurtevent, JF; Krivosic-Horber, R; Pellissier, JF; Vermersch, P;
Indirizzi:
Hop Roger Salengro, Dept Neurol, F-59037 Lille, France Hop Roger SalengroLille France F-59037 pt Neurol, F-59037 Lille, France Hop Roger Salengro, Dept Neuropathol, F-50037 Lille, France Hop Roger Salengro Lille France F-50037 uropathol, F-50037 Lille, France Hop Roger Salengro, Dept Genet, F-50037 Lille, France Hop Roger Salengro Lille France F-50037 ept Genet, F-50037 Lille, France Hop Roger Salengro, Dept Neurophysiol, F-50037 Lille, France Hop Roger Salengro Lille France F-50037 rophysiol, F-50037 Lille, France Hop Roger Salengro, Dept Anesthesiol, F-50037 Lille, France Hop Roger Salengro Lille France F-50037 esthesiol, F-50037 Lille, France CHU Timone, Dept Neuropathol, F-13357 Marseille 9, France CHU Timone Marseille France 9 t Neuropathol, F-13357 Marseille 9, France
Titolo Testata:
NEUROMUSCULAR DISORDERS
fascicolo: 6-7, volume: 11, anno: 2001,
pagine: 538 - 541
SICI:
0960-8966(200109)11:6-7<538:CMWCCA>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
DISEASE;
Keywords:
central cores; fingerprint bodies; congenital myopathy; malignant hyperthermia;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Stojkovic, T Ctr Hosp Reg & Univ Lille, Serv Neurol D, Pl Verdun, F-59037 Lille, France Ctr Hosp Reg & Univ Lille Pl Verdun Lille France F-59037 nce
Citazione:
T. Stojkovic et al., "Congenital myopathy with central cores and fingerprint bodies in association with malignant hyperthermia susceptibility", NEUROMUSC D, 11(6-7), 2001, pp. 538-541

Abstract

A 26-year-old man had proximal weakness in the shoulder and the pelvic girdle since infancy. His sister, aged 16 years, presented a similar phenotypewith more pronounced pelvic weakness. His muscle biopsy showed dense non-reducing inclusions which had a lamellar pattern at the ultrastructural level. These structures showed the typical features of fingerprint inclusions which were widely distributed in the fibers. Several central cores and otherstructural changes such as Z-line streaming were also observed. In view ofthe central cores, the male patient was investigated for malignant hyperthermia susceptibility. After exposure to halothane or caffeine, unusual intense contractures were observed on fiber preparations. The coexistence of central cores associated with fingerprint inclusions is suggestive of mixed congenital myopathy, which is in our case associated with malignant hyperthermia susceptibility. (C) 2001 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 13/08/20 alle ore 14:27:32