Title: | Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE |
Journal : | Clinical genetics, 80, 5 |
Authors: | Maselli RA ; Arredondo J ; Cagney O ; Mozaffar T ; Skinner S ; Yousif S ; Davis RR ; Gregg JP ; Sivak M ; Konia TH ; Thomas K ; Wollmann RL |
Material Type: | Article |
Publication Date: | 2011 |
Size: | p. 444-451 |
Languages: | English |
Keywords : | anatomopathology ; case studies ; CHRNE gene ; congenital myasthenic syndrome ; epidermolysis bullosa ; family trees ; genetic mutations ; genotype-phenotype correlation ; PLEC gene |
Abstract: | Accès au résumé Pubmed/to pubmed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/21175599 |
Pubmed / DOI : | DOI : 10.1111/j.1399-0004.2010.01602.x |