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Titolo:
Proximal myotonic myopathy and proximal myotonic dystrophy: Two different entities? The phenotypic variability of proximal myotonic syndromes
Autore:
Schneider, C; Wessig, C; Muller, CR; Brechtelsbauer, D; Grimm, T;
Indirizzi:
Univ Wurzburg, Dept Neurol, D-97080 Wurzburg, Germany Univ Wurzburg Wurzburg Germany D-97080 Neurol, D-97080 Wurzburg, Germany Univ Wurzburg, Dept Human Genet, D-8700 Wurzburg, Germany Univ Wurzburg Wurzburg Germany D-8700 an Genet, D-8700 Wurzburg, Germany Univ Wurzburg, Dept Neuroradiol, D-8700 Wurzburg, Germany Univ Wurzburg Wurzburg Germany D-8700 roradiol, D-8700 Wurzburg, Germany
Titolo Testata:
NEUROMUSCULAR DISORDERS
fascicolo: 5, volume: 11, anno: 2001,
pagine: 485 - 488
SICI:
0960-8966(200107)11:5<485:PMMAPM>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
CATARACTS;
Keywords:
proximal myotonic myopathy; proximal myotonic dystrophy; myotonic dystrophy type 1; myotonic dystrophy type 2; multisystemic myotonic myopathies;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Schneider, C Univ Wurzburg, Dept Neurol, Josef Schneider Str 11, D-97080 Wurzburg, Germany Univ Wurzburg Josef Schneider Str 11 Wurzburg Germany D-97080
Citazione:
C. Schneider et al., "Proximal myotonic myopathy and proximal myotonic dystrophy: Two different entities? The phenotypic variability of proximal myotonic syndromes", NEUROMUSC D, 11(5), 2001, pp. 485-488

Abstract

Multisystemic myotonic myopathies are characterised by a variable pattern of symptoms and signs and a variable degree of disease severity. Proximal myotonic dystrophy has been described as an entity distinct from proximal myotonic myopathy because of severe proximal muscle weakness and dystrophic changes on magnetic reasonace imaging and on muscle histopathology. We describe two siblings, one of them presenting with a proximal myotonic myopathy phenotype, the other with a proximal myotonic dystrophy-like phenotype. Thevariability of disease expression in these two siblings suggests that a proximal myotonic dystropohy-like variant may occur in proximal myotonic myopathy. (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 15/07/20 alle ore 05:28:25