Clinical and histologic findings in autosomal centronuclear myopathy
Détails
ID Serval
serval:BIB_D2FFD5BAE4B4
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Clinical and histologic findings in autosomal centronuclear myopathy
Périodique
Neurology
ISSN
1526-632X (Electronic)
Statut éditorial
Publié
Date de publication
05/2004
Volume
62
Numéro
9
Pages
1484-90
Notes
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Review --- Old month value: May 11
Journal Article
Research Support, Non-U.S. Gov't
Review --- Old month value: May 11
Résumé
Centronuclear myopathy (CNM) is a congenital myopathy characterized by chains of centrally located nuclei in a large number of muscle fibers. Clinically, an early-onset form was reported in several autosomal-recessive (AR) families and many sporadic patients, whereas a late-onset form was found in most autosomal-dominant (AD) families. The boundary between these two forms remains unclear, and the molecular basis of autosomal CNM is still unresolved. To better define the clinical and morphologic characteristics of autosomal CNM, the authors analyzed a series of 29 patients from 12 families. Two subgroups were identified in three AD families: two families had a relatively late onset of disease and a slow progression of diffuse weakness, whereas the third family, who had a similar clinical course, also presented a unique diffuse muscle hypertrophy. Two presumed AR families and seven sporadic patients were analyzed together, and three subgroups were identified: 1) an early-onset form with ophthalmoparesis; 2) an early-onset form without ophthalmoparesis; and 3) a late-onset form without ophthalmoparesis. Overall, 23 muscle biopsies were reviewed; a majority of patients had >20% central nuclei, fiber type 1 predominance, and a radial distribution of sarcoplasmic strands on oxidative stains. A marked endomysial fibrosis was observed in three sporadic patients with a relatively severe clinical course. The classification reported in this study will be useful for the diagnosis and the follow-up evaluation of patients with autosomal CNM and for the research into the molecular defects underlying the condition.
Mots-clé
Adolescent
Adult
Age of Onset
Aged
Biopsy
Child
Child, Preschool
Diagnosis, Differential
Family
Female
Humans
Linkage (Genetics)
Male
Middle Aged
Muscle Fibers/pathology
Muscle, Skeletal/*pathology
Myopathies, Structural, Congenital/*diagnosis/genetics/pathology
Ophthalmoplegia/diagnosis/genetics/pathology
Severity of Illness Index
Pubmed
Web of science
Création de la notice
25/01/2008 10:11
Dernière modification de la notice
20/08/2019 15:53