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Titolo:
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q
Autore:
Melberg, A; Oldfors, A; Blomstrom-Lundqvist, C; Stalberg, E; Carlsson, B; Larsson, E; Lidell, C; Eeg-Olofsson, KE; Wikstrom, G; Henriksson, KG; Dahl, N;
Indirizzi:
Univ Uppsala Hosp, Dept Neurosci, S-75185 Uppsala, Sweden Univ Uppsala Hosp Uppsala Sweden S-75185 urosci, S-75185 Uppsala, Sweden Univ Uppsala Hosp, Dept Neurol, S-75185 Uppsala, Sweden Univ Uppsala HospUppsala Sweden S-75185 Neurol, S-75185 Uppsala, Sweden Univ Uppsala Hosp, Dept Clin Neurophysiol, S-75185 Uppsala, Sweden Univ Uppsala Hosp Uppsala Sweden S-75185 hysiol, S-75185 Uppsala, Sweden Univ Uppsala Hosp, Dept Genet & Pathol, S-75185 Uppsala, Sweden Univ Uppsala Hosp Uppsala Sweden S-75185 Pathol, S-75185 Uppsala, Sweden Univ Uppsala Hosp, Dept Clin Genet, S-75185 Uppsala, Sweden Univ Uppsala Hosp Uppsala Sweden S-75185 Genet, S-75185 Uppsala, Sweden Univ Uppsala Hosp, Dept Pathol, S-75185 Uppsala, Sweden Univ Uppsala HospUppsala Sweden S-75185 Pathol, S-75185 Uppsala, Sweden Univ Uppsala Hosp, Dept Cardiol, S-75185 Uppsala, Sweden Univ Uppsala Hosp Uppsala Sweden S-75185 ardiol, S-75185 Uppsala, Sweden Linkoping Univ Hosp, Neuromuscular Unit, S-58185 Linkoping, Sweden Linkoping Univ Hosp Linkoping Sweden S-58185 , S-58185 Linkoping, Sweden Univ Gothenburg, Sahlgrenska Hosp, Dept Pathol, Gothenburg, Sweden Univ Gothenburg Gothenburg Sweden Hosp, Dept Pathol, Gothenburg, Sweden
Titolo Testata:
ANNALS OF NEUROLOGY
fascicolo: 5, volume: 46, anno: 1999,
pagine: 684 - 692
SICI:
0364-5134(199911)46:5<684:ADMMWA>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEREDITARY DISTAL MYOPATHY; LONG ARM; DESMIN ACCUMULATION; GENE; MAPS; DYSPLASIA; SKELETAL; MUSCLE; LOCUS; POSITIVITY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
42
Recensione:
Indirizzi per estratti:
Indirizzo: Melberg, A Univ Uppsala Hosp, Dept Neurosci Neurol, S-75185 Uppsala, Sweden Univ Uppsala Hosp Uppsala Sweden S-75185 5185 Uppsala, Sweden
Citazione:
A. Melberg et al., "Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q", ANN NEUROL, 46(5), 1999, pp. 684-692

Abstract

Twenty-one members of a Swedish family suffering from myopathy and cardiomyopathy underwent neurological and cardiological investigations. Medical charts of 2 affected deceased patients were reviewed. Twelve patients had myopathy. The distribution of weakness was axial in mildly affected, axial andpredominantly distal in moderately affected, and generalized in severely affected patients. The electromyogram showed signs of myopathy in 10 patients. Muscle biopsy specimens showed myopathic changes, rimmed vacuoles, and accumulation of desmin, dystrophin, and other proteins. Electron microscopy revealed granulofilamentous changes and disorganization of myofibrils. Several patients had episodes of chest pain or palpitations. Three men had arrhythmogenic right ventricular cardiomyopathy. Nonsustained ventricular tachycardia, atrial flutter, and dilatation of the ventricles mainly affecting the right ventricle were documented. Two of them had a pacemaker implanted because of atrioventricular block and sick sinus syndrome. Inheritance is autosomal dominant with variable onset and severity of skeletal muscle and cardiac involvement. Linkage analysis of candidate chromosomal regions showeda maximum 2-point LOD score of 2.76 for marker locus D10S1752 on chromosome 10q. A multipoint peak LOD score of 3.06 between markers D10S605 and D10S215 suggests linkage to chromosome 10q22.3, and this region may harbor a genetic defect for myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/07/20 alle ore 10:16:48