Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype

ABSTRACT Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy‐number reduction (N

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Veröffentlicht in:	Human mutation 2015-04, Vol.36 (4), p.443-453
Hauptverfasser:	Puppo, Francesca, Dionnet, Eugenie, Gaillard, Marie-Cécile, Gaildrat, Pascaline, Castro, Christel, Vovan, Catherine, Bertaux, Karine, Bernard, Rafaelle, Attarian, Shahram, Goto, Kanako, Nishino, Ichizo, Hayashi, Yukiko, Magdinier, Frédérique, Krahn, Martin, Helmbacher, Françoise, Bartoli, Marc, Lévy, Nicolas
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Alleles Alternative Splicing Cadherins - genetics Cellular Biology Child Child, Preschool Chromosomes, Human, Pair 4 DNA Methylation Exons facioscapulohumeral dystrophy FAT1-protocadherin Gene Expression Genes, Reporter Genetic Variation Genetics Genotype & phenotype Human genetics Humans Infant Infant, Newborn Life Sciences Middle Aged Muscular Dystrophy, Facioscapulohumeral - diagnosis Muscular Dystrophy, Facioscapulohumeral - genetics Mutation Neurological disorders neuromuscular pathology Phenotype Polymorphism, Single Nucleotide Sequence Analysis, DNA Young Adult
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Beschreibung
Zusammenfassung:	ABSTRACT Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy‐number reduction (N
ISSN:	1059-7794 1098-1004
DOI:	10.1002/humu.22760