Phenotype‐genotype relations in facioscapulohumeral muscular dystrophy type 1
نویسندگان
چکیده
منابع مشابه
FAT1 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...
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 کاملEarly 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...
متن کاملGenetic counselling in facioscapulohumeral muscular dystrophy.
Clinical data are presented from a survey of 41 families with dominantly inherited facioscapulohumeral muscular dystrophy (FSHD) in which over 500 family members were examined, including 168 affected subjects. New mutation could account for six isolated cases. Results suggest that 33% of heterozygotes over 40 years are mildly affected and a majority develop significant lower limb weakness; 19% ...
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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2018
ISSN: 0009-9163,1399-0004
DOI: 10.1111/cge.13446