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.
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 .
What is the mode of inheritance of Facioscapulohumeral muscular dystrophy (FSHD)?
What is the mode of inheritance of Facioscapulohumeral muscular dystrophy ( FSHD ) ?
autosomal dominant
autosomal-dominant autosomal dominant