| Autor: |
G W, Padberg, R R, Frants, O F, Brouwer, C, Wijmenga, E, Bakker, L A, Sandkuijl |
| Rok vydání: |
2013 |
| Předmět: |
|
| Zdroj: |
Musclenerve. Supplement. (2) |
| Popis: |
Extrapolating the figures from a previous study on FSHD in a province of The Netherlands to the entire Dutch population suggests that at present a nearly complete overview is obtained of all symptomatic kindred. In 139 families, dominant inheritance was observed in 97, a pattern compatible with germline mosaicism in 6, while sporadic cases were found in 36 families. A mutation frequency of 9.6% was calculated. Mental retardation and severe retinal vasculopathy were reported in low frequencies (1%). Early onset was seen more frequently in sporadic cases. Chromosome 4 linkage appeared excluded in 3 of 22 autosomal-dominant families. The clinical pictures in the linked and nonlinked families were identical. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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