Ontology highlight
ABSTRACT:
SUBMITTER: Flanigan KM
PROVIDER: S-EPMC3142924 | biostudies-literature | 2009 Nov
REPOSITORIES: biostudies-literature
Flanigan Kevin M KM Dunn Diane M DM von Niederhausern Andrew A Howard Michael T MT Mendell Jerry J Connolly Anne A Saunders Carol C Modrcin Ann A Dasouki Majed M Comi Giacomo P GP Del Bo Roberto R Pickart Angela A Jacobson Richard R Finkel Richard R Medne Livija L Weiss Robert B RB
Neuromuscular disorders : NMD 20090929 11
A recurrent exon 1 nonsense mutation in the DMD gene, p.Trp3X (c.9G>A), was first ascertained in a proband with no symptoms until age 20 and who walked until the age of 62. Six other unrelated kindreds carrying a p.Trp3X mutation were subsequently ascertained, five from North America and one from Italy. In six of the seven kindreds, the proband presented in childhood incidental to elevated creatine kinase levels detected in the context of other illnesses, or in the setting of cramps with or with ...[more]