[First facioscapulohumeral muscular dystrophy prenatal diagnosis in a Bulgarian family].
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common myopathy. It is characterized by progressive descendent involvement of facial, shoulder girdle, truncal and lower extremities muscles. FSHD locus was mapped on the terminal part of the long arm of chromosome 4 (4q35). The disease is caused by a deletion of an integral number of tandem D4Z4 repeats and dimension of the pathological fragments < or = 38kb. Prenatal diagnosis of FSHD is possible but it is potentially difficult because of the big amount and high quality of DNA required. Hereby we describe the first prenatal tests performed for a Bulgarian family.
Buzhkov
B Ts
BTs
Vŭzharova
R
R
Dimitrova
V
V
Dimova
I
I
Tŭrnev
I
I
van der Wielen
M
M
van der Maarel
S
S
Bakker
B
B
D000328:Adult; D002031:Bulgaria; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008840:Microfilament Proteins; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D009687:Nuclear Proteins; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011506:Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins; D017422:Sequence Analysis, DNA; D020080:Tandem Repeat Sequences; D014463:Ultrasonography
C101270:FRG1 protein, human; D008840:Microfilament Proteins; D009687:Nuclear Proteins; D011506:Proteins; D016601:RNA-Binding Proteins