Title

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.

Document Type

Journal Article

Publication Date

6-1-2015

Student Program

IBS

Journal

European journal of human genetics : EJHG

Volume

23

Issue

6

Inclusive Pages

883-886

DOI

10.1038/ejhg.2014.169

Keywords

Actins; Adult; Amino Acid Sequence; Genes, Recessive; Humans; Male; Molecular Sequence Data; Mutation, Missense; Myopathies, Structural, Congenital; Polymorphism, Single Nucleotide; Siblings; Spine

Peer Reviewed

1