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Epidermolysis bullosa with late‐onset muscular dystrophy and plectin deficiency
Author(s) -
Yiu Eppie M.,
Klausegger Alfred,
Waddell Leigh B.,
Grasern Nikolaus,
Lloyd Lyn,
Tran Kim,
North Kathryn N.,
Bauer Johann W.,
McKelvie Penelope,
Chow C.W.,
Ryan Monique M.,
Murrell Dedee F.
Publication year - 2011
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.22076
Subject(s) - epidermolysis bullosa simplex , medicine , epidermolysis bullosa , plectin , muscular dystrophy , dermatology , compound heterozygosity , mutation , muscle weakness , pathology , anatomy , genetics , gene , intermediate filament , biology , cytoskeleton , cell
Epidermolysis bullosa associated with muscular dystrophy is a rare, autosomal recessive form of epidermolysis bullosa simplex caused by mutations in the plectin gene, PLEC1 . We describe a phenotypically mild case due to compound heterozygous mutations in PLEC1 (2677_2685del and the novel mutation Q1644X). Clinical features included mild skin blistering since birth, slowly progressive and late‐onset upper limb–predominant weakness, facial weakness, ptosis, incomplete ophthalmoplegia, and paroxysmal atrial fibrillation. Muscle Nerve 44: 135–141, 2011