Article
Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations.
Laboratory investigation; a journal of technical methods and pathology - 1 Feb 1998
Dang M, Pulkkinen L, Smith F J, McLean W H, Uitto J
Abstract excerpt
Absence of plectin, a large cytoskeleton-associated protein expressed in the skin and muscle, has been shown to underlie epidermolysis bullosa with muscular dystrophy (EB-MD), an autosomal recessive disorder (OMIM No. 226670). In the present study, we report the case of a patient who presented with neonatal blistering and late-onset muscular dystrophy with nail and tooth abnormalities, as well as severe...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.