Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy

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Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy with a relatively late age of onset (usually in the late teens) compared with Duchenne and many other muscular dystrophies. The current FSHD disease model postulates that contraction of the D4Z4 array at chromosome 4q35 leads to a more open chromatin conformation in that region and allows transcription of the DUX4 gene. DUX...

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determination of contraction of d4z4 repeats on chromosome 4q35 in iranian facioscapulohumeral muscular dystrophy patients

facioscapulohumeral muscular dystrophy (fshd)is characterized by weakness of the facial, scapular muscles  and the dorsiflexors of the foot. severity in this disorder is highly variable. approximately 95% of individuals with fshd phenotype have type 1 fshd, with d4z4 allele of between one and ten repeat units and about 5% have type 2 fshd with mutations in the chromatin modifier smchd1gene whic...

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Facioscapulohumeral muscular dystrophy in the Dutch population.

Extrapolating the figures from a previous study on FSHD in a province of The Netherlands to the entire Dutch population suggests that at present a nearly complete overview is obtained of all symptomatic kindred. In 139 families, dominant inheritance was observed in 97, a pattern compatible with germline mosaicism in 6, while sporadic cases were found in 36 families. A mutation frequency of 9.6%...

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Early onset facioscapulohumeral muscular dystrophy.

We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen normally in FSHD. In 7 patients Southern blotting with p13E-11 was performed which showed an abnormal EcoRI fragment (13-22 kb) in 6 of them. We conclud...

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a rare case of facioscapulohumeral muscular dystrophy and myasthenia gravis.

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ژورنال

عنوان ژورنال: The American Journal of Human Genetics

سال: 2007

ISSN: 0002-9297

DOI: 10.1086/519311