Ontology highlight
ABSTRACT:
SUBMITTER: Soltanzadeh P
PROVIDER: S-EPMC2944769 | biostudies-literature | 2010 Aug
REPOSITORIES: biostudies-literature
Soltanzadeh Payam P Friez Michael J MJ Dunn Diane D von Niederhausern Andrew A Gurvich Olga L OL Swoboda Kathryn J KJ Sampson Jacinda B JB Pestronk Alan A Connolly Anne M AM Florence Julaine M JM Finkel Richard S RS Bönnemann Carsten G CG Medne Livija L Mendell Jerry R JR Mathews Katherine D KD Wong Brenda L BL Sussman Michael D MD Zonana Jonathan J Kovak Karen K Gospe Sidney M SM Gappmaier Eduard E Taylor Laura E LE Howard Michael T MT Weiss Robert B RB Flanigan Kevin M KM
Neuromuscular disorders : NMD 20100713 8
Manifesting carriers of DMD gene mutations may present diagnostic challenges, particularly in the absence of a family history of dystrophinopathy. We review the clinical and genetic features in 15 manifesting carriers identified among 860 subjects within the United Dystrophinopathy Project, a large clinical dystrophinopathy cohort whose members undergo comprehensive DMD mutation analysis. We defined manifesting carriers as females with significant weakness, excluding those with only myalgias/cra ...[more]