Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

In facioscapulohumeral muscular dystrophy (FSHD), the wide range of clinical severity observed both within and between families has obscured past attempts to identify any phenotypic differences between families from which phenotype-genotype correlation could be proposed, although it is noted that ag...

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Bibliographic Details
Published in:Human molecular genetics 1995-05, Vol.4 (5), p.951-958
Main Authors: Lunt, Peter W., Jardine, Phillp E., Koch, Manuela C., Maynard, Julie, Osborn, Michael, Williams, Maggie, Harper, Peter S., Upadhyaya, Meena
Format: Article
Language:English
Subjects:
Adolescent
Adult
age
Age of Onset
Aged
Alleles
Biological and medical sciences
Child
Child, Preschool
Chromosomes, Human, Pair 4
deletion
Diseases of striated muscles. Neuromuscular diseases
facioscapulohumeral muscular dystrophy
Female
Genetic Variation
Genotype
Humans
Male
man
Medical sciences
Middle Aged
Minisatellite Repeats
Muscular Dystrophies - genetics
mutation
Neurology
Pedigree
Phenotype
phenotypes
Wheelchairs
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Summary:In facioscapulohumeral muscular dystrophy (FSHD), the wide range of clinical severity observed both within and between families has obscured past attempts to identify any phenotypic differences between families from which phenotype-genotype correlation could be proposed, although it is noted that age at onset is youngest and severity greatest in isolated cases. From 14/16 large 4q35-linked FSHD families, and 25/34 isolated cases exhibiting a de novo D4F1O4S1 DNA fragment, we find a significant correlation between proband age at onset and FSHD-associated D4F104S1 fragment size (r = 0.56; p
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/4.5.951