+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy



Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy



Human Molecular Genetics 5(10): 1539-1546



In a distinct autosomal recessive variant of epidermolysis bullosa, EB-MD, life-long skin blistering is associated with late-onset muscular dystrophy of unknown etiology. Electron microscopy of these patients' skin suggests that tissue separation occurs intracellularly at the level of the hemidesmosomal inner plaque, which contains plectin, a high molecular weight cytoskeletal associated protein, also expressed in the sarcolemma of the muscle.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 008781657

Download citation: RISBibTeXText

PMID: 8894687

DOI: 10.1093/hmg/5.10.1539


Related references

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscular Disorders 20(11): 709-711, 2010

Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. Journal of Investigative Dermatology 114(2): 381-387, 2000

A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. Journal of Clinical Investigation 98(10): 2196-2200, 1996

Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). Journal of Molecular Diagnostics 7(1): 28-35, 2005

Epidermolysis bullosa simplex with muscular dystrophy Cloning of the human plectin gene and pathogenic mutations in four families. American Journal of Human Genetics 59(4 Suppl. ): A38, 1996

Epidermolysis bullosa with muscular dystrophy A novel premature termination codon and de novo deletion mutations in the plectin gene. Journal of Investigative Dermatology 112(4): 615, 1999

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy. Acta Neuropathologica Communications 4(1): 44, 2016

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. Muscle and Nerve 44(1): 135-141, 2011

Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation. Acta Dermato-Venereologica 84(2): 124-131, 2004

Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy. Archives of Dermatological Research 291(10): 531-537, 1999

Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests. Journal of Investigative Dermatology 112(1): 109-112, 1999

Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation. European Journal of Pediatrics 163(4-5): 218-222, 2004

Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. Neuromuscular Disorders 25(2): 165-168, 2015

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 78(2): 195-204, 1998

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy. Muscle and Nerve 35(1): 24-35, 2007