| Autor: |
Buzhov BT; Department of Neurology, Sofia Medical University, Sofia, Bulgaria., Lemmers RJ, Tournev I, van der Wielen MJ, Ishpekova B, Petkov R, Petrova J, Frants RR, Padberg GW, van der Maarel SM |
| Jazyk: |
angličtina |
| Zdroj: |
Neuromuscular disorders : NMD [Neuromuscul Disord] 2005 Jul; Vol. 15 (7), pp. 471-5. |
| DOI: |
10.1016/j.nmd.2005.03.005 |
| Abstrakt: |
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat on 4q35. We describe a FSHD family of unusual genetic complexity presenting with two independent mitotic contractions of D4Z4 in two successive generations. In addition, a non-pathogenic FSHD-sized allele of approximately the same size is interfering with the DNA diagnosis in this family. Interestingly, this allele is not recognized by the probes 4qA and 4qB representing two distal variants of 4qter, suggesting the presence of yet another, infrequent variant of 4qter. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
Full Text from ScienceDirect