Coats syndrome in facioscapulohumeral dystrophy type 1: Frequency and D4Z4 contraction size
نویسندگان
چکیده
منابع مشابه
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...
متن کاملLow penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study
BACKGROUND Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35. Penetrance in the range of the largest alleles is poorly known. Our objective was to study the penetrance of FSHD1 in patients carrying alleles ranging between 6 to10 RUs and to evaluate the influence of sex...
متن کاملFAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array. Recent studies revealed that the FAT1 expression is associated with disease activity of FSHD, and the FAT1 alterations result in myopathy with a FSHD-like phenotype. We describe a 59-year-old woman with both contracted D4Z4 repeat units and a FAT1 mutation. Shoulder girdle muscle weakness de...
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abstract in written mode of language, metadiscourse markers are used commonly to help writers in general and academic writers in particular to produce coherent and professional texts. the purpose of the present study was to compare introduction sections of applied linguistics and physics articles regarding their use of interactive and interactional metadiscourse markers based on the model pro...
15 صفحه اولSubclinical facioscapulohumeral muscular dystrophy masquerading as bilateral Coats disease in a woman.
is unlikely to be explained on the basis of deep intronic mutations or regulatory element mutations given the normal results of reverse transcription–PCR. Normal reverse transcription–PCR results also rule out the possibility of gene rearrangement as a potential cause. Therefore, the causative mutation must reside in an as yet unannotated gene or intergenic regulatory element within the minimal...
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ژورنال
عنوان ژورنال: Neurology
سال: 2013
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e3182897116