Non-collagenic etiologies of muscle weakness with joint deformities: about two paradigmatic case reports.
Acta Myol
; 24(2): 78-9, 2005 Oct.
Article
em En
| MEDLINE
| ID: mdl-16550920
ABSTRACT
Muscle weakness associated to marked joint deformities is not an uncommon clinical situation in daily neuromuscular clinics. These abnormalities encompass a large variety of conditions including non-primary muscle disorders. Besides well-defined and rather readily recognisable hereditary syndromes such as Bethlem myopathy or Ullrich congenital muscular dystrophy, some unusual etiologies should also be considered. We report here two paradigmatic cases in which we found mutations in two novel genes corresponding to two newly described entities (progressive pseudorheumatoid dysplasia, PPD, and infantile systemic hyalinosis, ISH) both conditions in which the clinical picture can mimick primary muscle disease.
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Base de dados:
MEDLINE
Assunto principal:
Deformidades Articulares Adquiridas
/
Debilidade Muscular
/
Proteínas de Ligação a Fator de Crescimento Semelhante a Insulina
/
Proteínas de Neoplasias
Tipo de estudo:
Etiology_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Acta Myol
Assunto da revista:
CARDIOLOGIA
/
FISIOLOGIA
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
França