Condition: Epidermolysa bullosa simplex and limb girdle muscular dystrophy


rs111730406 in PLEC gene and Epidermolysa bullosa simplex and limb girdle muscular dystrophy PMID 23289980 2013 Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.

PMID 19945614 2010 Plectin gene defects lead to various forms of epidermolysis bullosa simplex.

PMID 8830774 1996 Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions.

PMID 10652002 2000 Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.

PMID 15654962 2005 Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia.