Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
MUSCLE-NERVE INVOLVEMENT IN AUTOSOMAL-DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM
Autore:
MELBERG A; LUNDBERG PO; HENRIKSSON KG; OLSSON Y; STALBERG E;
Indirizzi:
UNIV UPPSALA HOSP,DEPT NEUROL S-75185 UPPSALA SWEDEN UNIV UPPSALA HOSP,DEPT NEUROPHYSIOL S-75185 UPPSALA SWEDEN LINKOPING UNIV HOSP,NEUROMUSCULAR UNIT S-58185 LINKOPING SWEDEN
Titolo Testata:
Muscle & nerve
fascicolo: 6, volume: 19, anno: 1996,
pagine: 751 - 757
SICI:
0148-639X(1996)19:6<751:MIIAPE>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
INCLUSION BODY MYOSITIS; MITOCHONDRIAL-DNA; PERIPHERAL NEUROPATHY; MULTIPLE DELETIONS; MYOPATHY; DISEASE;
Keywords:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; FAMILIAL; MITOCHONDRIAL MYOPATHY; NEUROPATHY; ELECTROPHYSIOLOGY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
A. Melberg et al., "MUSCLE-NERVE INVOLVEMENT IN AUTOSOMAL-DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM", Muscle & nerve, 19(6), 1996, pp. 751-757

Abstract

Sixteen members of a family with a history of autosomal dominant progressive external ophthalmoplegia (adPEO) with hypogonadism were examined, The muscular involvement commenced cranially and descended in relation to increasing disease duration, The neuromuscular signs were PEG,dysarthria, dysphonia, limb muscle weakness with wasting, absence of Achilles tendon reflexes, and distal vibration sensory loss, The electromyogram (EMG) was myopathic in facial and proximal limb muscles. Neurogenic involvement was suspected in a few tibial anterior muscles, Neurography showed signs of axonal neuropathy correlated to clinical signs. F-responses were reduced in number or absent in peroneal nerves, and did not correlate to clinical signs or disease duration, Muscle biopsies in advanced cases had structural abnormalities of mitochondria, ragged-red fibers, and focal cytochrome c oxidase deficency. A combination of muscle-nerve involvement with PEG, Achilles tendon areflexia, distal vibration sensory impairment, myopathic EMG, and abnormally lowsural nerve responses seems to be typical of this type of mitochondrial disorder. (C) 1996 John Wiley & Sons, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 13/07/20 alle ore 20:19:46