These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
Pubmed for Handhelds
PUBMED FOR HANDHELDS
Search MEDLINE/PubMed
Title: A family of Emery-Dreifuss muscular dystrophy with extreme difference in severity. Author: Higuchi Y, Hongou M, Ozawa K, Kokawa H, Masaki M. Journal: Pediatr Neurol; 2005 May; 32(5):358-60. PubMed ID: 15866440. Abstract: This report describes two patients, a father and son, with autosomal dominant Emery-Dreifuss muscular dystrophy. Although the father had the common phenotype, the son had a severe phenotype including early onset of weakness and fatal cardiomyopathy in childhood. Among the patients with severe phenotype of autosomal dominant Emery-Dreifuss muscular dystrophy, he is the first to have familial onset, and in the severe end of this disease spectrum.[Abstract] [Full Text] [Related] [New Search]