Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.
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چکیده
منابع مشابه
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.
A major advance in the molecular diagnosis of facioscapulohumeral muscular dystrophy is the recently reported elimination of confounding DNA fragments arising from homologous sequences located at 10q26. In order to evaluate the specificity and sensitivity of this important diagnostic test, we have compared a group of 130 patients fulfilling the diagnostic criteria for FSHD with 200 control subj...
متن کاملUK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry
The United Kingdom (UK) Facioscapulohumeral Dystrophy (FSHD) Patient Registry launched in May 2013. Funded by the Muscular Dystrophy Campaign and supported by the TREAT-NMD Alliance. This patient driven registry collects the internationally agreed core dataset, an outcome of an ENMC Workshop held in 2010 [1], through a novel online portal (http://www.fshd-registry. org/uk). Genetic details are ...
متن کاملAsymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD).
Facioscapulohumeral muscular dystrophy is an autosomal dominant muscle disorder, mapped to 4q35. It is characterized by remarkable inter- and intrafamilial clinical variability ranging from severe phenotype to asymptomatic carriers. The aim of the present study was to assess the size of the Eco RI fragment in a large sample of asymptomatic or minimally affected carriers as well as symptomatic p...
متن کاملA new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD).
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the size reduction of a polymorphic repeat array on 4q35. Probe p13E-11 recognises this chromosomal rearrangement and is generally used for diagnosis. However, diagnosis of FSHD is complicated by three factors. First, the probe cross hybridises to a highly homologous repeat array locus on chromosome 10q26. Second, although a BlnI polymo...
متن کاملA cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD)
Measuring the severity and progression of facioscapulohumeral muscular dystrophy (FSHD) is particularly challenging because muscle weakness progresses over long periods of time and can be sporadic. Biomarkers are essential for measuring disease burden and testing treatment strategies. We utilized the sensitive, specific, high-throughput SomaLogic proteomics platform of 1129 proteins to identify...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1997
ISSN: 1468-6244
DOI: 10.1136/jmg.34.6.476