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

Details

Serval ID
serval:BIB_741F2B872758
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features
Journal
Brain
Author(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)
Publication state
Published
Issued date
06/2000
Volume
123 ( Pt 6)
Pages
1229-37
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jun
Abstract
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.
Keywords
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
Yes
Create date
25/01/2008 16:17
Last modification date
20/08/2019 14:31
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