Article
Marked hemiatrophy in carriers of Duchenne muscular dystrophy.
Archives of neurology - 1 Apr 2010
Rajakulendran Sanjeev, Kuntzer Thierry, Dunand Murielle, Yau Shu C, Ashton Emma J, Storey Helen, McCauley Joanna, Abbs Stephen, Thonney Francine, Leturcq France, Lobrinus Johannes A, Yousry Tarek, Farmer Simon, Holton Janice L, Hanna Michael G
Abstract excerpt
OBJECTIVE: To describe the clinical and molecular genetic findings in 2 carriers of Duchenne muscular dystrophy (DMD) who exhibited marked hemiatrophy. Duchenne muscular dystrophy is an X-linked disorder in which affected male patients harbor mutations in the dystrophin gene. Female patients with heterozygous mutations may be manifesting carriers. DESIGN: Case study. SETTING: Neurology clinic. PATIENTS: Two...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.