Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

Lemmers, Richard J L F

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. [electronic resource] - Nature genetics Dec 2012 - 1370-4 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1546-1718

10.1038/ng.2454 doi


Adult
Aged
Chromosomal Proteins, Non-Histone--genetics
Chromosomes, Human, Pair 18--genetics
CpG Islands--genetics
DNA Methylation--genetics
Epigenesis, Genetic
Female
Haplotypes
Heredity--genetics
Homeodomain Proteins--genetics
Humans
Male
Middle Aged
Muscular Dystrophy, Facioscapulohumeral--genetics
Mutation