Atypical Phenotypes in Patients With Facioscapulohumeral Muscular Dystrophy 4q35 Deletion
نویسندگان
چکیده
منابع مشابه
Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion.
BACKGROUND Facioscapulohumeral muscular dystrophy (FSHD) is associated with a deletion on chromosome 4q35. Recent studies have shown that this deletion is found in patients with other phenotypes in addition to those with the classic Landouzy-Dejerine FSHD phenotype. OBJECTIVE To examine patients with atypical phenotypes and an FSHD deletion on chromosome 4q35. DESIGN Clinical characterizati...
متن کاملdetermination 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 کاملFacioscapulohumeral 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...
متن کاملDirect detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD).
The p13E-11 probe has been shown to detect DNA rearrangements in sporadic and familial cases of FSHD. Its use, however, has been hampered by the fact that it detects at least two pairs of EcoRI alleles, one derived from the 4q35 region (D4F104S1), the other from 10q26 (D10F104S2). We have cloned p13E-11 EcoRI fragments from the 4q35 and 10q26 subtelomeric regions and shown the presence of sever...
متن کاملCeliac Disease Associated with Facioscapulohumeral Muscular Dystrophy
Introduction. The association of celiac disease and facioscapulohumeral muscular dystrophy was not reported earlier in the literature. Case presentation. A 35-year-old woman diagnosed clinically with facioscapulohumeral muscular dystrophy 23 years ago. In the family history patients’ mother was diagnosed with facioscapulohumeral muscular dystrophy, too. Physical examination revealed bilateral f...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2003
ISSN: 0003-9942
DOI: 10.1001/archneur.60.10.1421