Condition: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q


rs111730406 in PLEC gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q PMID 23289980 2013 Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.

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

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