Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features

Détails

ID Serval
serval:BIB_741F2B872758
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features
Périodique
Brain
Auteur⸱e⸱s
Argov  Z., Sadeh  M., Mazor  K., Soffer  D., Kahana  E., Eisenberg  I., Mitrani-Rosenbaum  S., Richard  I., Beckmann  J., Keers  S., Bashir  R., Bushby  K., Rosenmann  H.
ISSN
0006-8950 (Print)
Statut éditorial
Publié
Date de publication
06/2000
Volume
123 ( Pt 6)
Pages
1229-37
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jun
Résumé
The cluster in Jews of Libyan origin of limb-girdle muscular dystrophy type 2B due to a dysferlin 1624delG mutation is described. The carrier frequency of this mutation is calculated to be approximately 10% in this population, in which the disease prevalence is at least 1 per 1300 adults. Twenty-nine patients from 12 families were all homozygous for the same mutation. However, clinical features were heterogeneous even within the same family: in half of the patients onset was in the distal muscles of the legs, which is similar to Miyoshi myopathy, while in others onset was in the proximal musculature, which is similar to other forms of limb-girdle dystrophies. Age at onset varied from 12 to 28 years (mean 20.3 +/- 5.5 years). One patient was presymptomatic at age 28 years. Progression was slow regardless of age of onset, patients remaining ambulatory until at least 33 years. Five patients described subacute, painful enlarged calves as an early, unusual feature. The variable features in this ethnic cluster contribute to the definition of the clinical spectrum of dysferlinopathies in general. The cause of the observed heterogeneity remains unclear.
Mots-clé
Adult Biopsy DNA Mutational Analysis Electromyography Family Health Female Homozygote Humans Hypertrophy Jews/*genetics Libya Male *Membrane Proteins Middle Aged Muscle Proteins/*genetics Muscle, Skeletal/pathology Muscular Dystrophies/*ethnology/*genetics/pathology Pedigree Polymorphism, Single-Stranded Conformational
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 17:17
Dernière modification de la notice
20/08/2019 15:31
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