Facioscapulohumeral Muscular Dystrophy: From Clinical Data to Molecular Genetics and Return
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منابع مشابه
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive hereditary neuromuscular disorder, transmitted in an autosomal dominant fashion. Its clinical expression is highly variable, ranging from almost asymptomatic subjects to wheelchair dependent patients. The molecular defect has been linked to chromosome 4q35 markers and has been related to deletions of tandemly repeated sequences loca...
متن کاملRethinking the genetic basis and inheritance of fascioscapulohumeral muscular dystrophy.
1. Mostacciuolo M, Pastorello E, Vazza G et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet 2009: 75: 550–555. 2. Lemmers RJLF, Van der Vliet PJ, Klooster R et al. A unifying genetic model for fascioscapulohumeral muscular dystrophy. Science 2010: 329: 1650–1653. 3. Scionti I, Greco F, Ricci G et al. Large-sca...
متن کاملGenetic counselling in facioscapulohumeral muscular dystrophy.
Clinical data are presented from a survey of 41 families with dominantly inherited facioscapulohumeral muscular dystrophy (FSHD) in which over 500 family members were examined, including 168 affected subjects. New mutation could account for six isolated cases. Results suggest that 33% of heterozygotes over 40 years are mildly affected and a majority develop significant lower limb weakness; 19% ...
متن کاملBest practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: Workshop 9th June 2010, LUMC, Leiden, The Netherlands
During the 171st European Neuromuscular Centre international workshop Standards of care and management of facioscapulohumeral muscular dystrophy (FSHD) in January 2010 [1], it was concluded that there was a need for further discussion to better define the “gold standard” for diagnostic procedures for FSHD. With the increasing complexity of the genetics of FSHD, it is important to reach an inter...
متن کاملLinkage analysis of French families with facioscapulohumeral muscular dystrophy.
Linkage analysis was undertaken in seven French families with facioscapulohumeral muscular dystrophy (FSHD). Six polymorphic DNA probes were studied, including random DNA sequences, coding sequences, and a hypervariable marker. No evidence for linkage of these probes to the disease was detected, and the results exclude probable location of the FSHD gene from three chromosomal regions (16p, prox...
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تاریخ انتشار 2012