Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
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چکیده
منابع مشابه
UK 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 ...
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Facioscapulohumeral muscular dystrophy (FSHD) is most often associated with variegated expression in somatic cells of the normally repressed DUX4 gene within the D4Z4-repeat array. The most common form, FSHD1, is caused by a D4Z4-repeat array contraction to a size of 1-10 units (normal range 10-100 units). The less common form, FSHD2, is characterized by D4Z4 CpG hypomethylation and is most oft...
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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...
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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 کاملPredicting hearing loss in facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy (FSHD) has an estimated prevalence of 4–7 per 100,000 population, making it the third most common type of muscular dystrophy. The classic form of FSHD is characterized by weakness that is slowly progressive and often asymmetric in the face, scapulae, upper arms, lower legs, and abdomen. The age at onset of symptoms varies from infancy to middle age, and li...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2012
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng.2454