Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency

Muscle and Nerve

Volumn 44, Issue 1, 2011, Pages 135-141

  Yiu, Eppie M ^a   Klausegger, Alfred ^b   Waddell, Leigh B ^c   Grasern, Nikolaus ^b   Lloyd, Lyn ^d   Tran, Kim ^e   North, Kathryn N ^c   Bauer, Johann W ^b   McKelvie, Penelope ^f   Chow, C W ^a   Ryan, Monique M ^a   Murrell, Dedee F ^g  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b PARACELSUS MEDICAL UNIVERSITY   (Austria)

^c UNIVERSITY OF SYDNEY   (Australia)

^d ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^e ST GEORGE HOSPITAL   (Australia)

^f ST VINCENT S HOSPITAL   (Australia)

^g UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

Atrial fibrillation; Epidermolysis bullosa simplex; Muscular dystrophy; Neuromuscular junction; Plectin

Indexed keywords

3,4 DIAMINOPYRIDINE; PLECTIN; PYRIDOSTIGMINE;

ADULT; ARTICLE; BIRTH; BLISTER; CASE REPORT; DISEASE COURSE; DISEASE SEVERITY; DRUG TREATMENT FAILURE; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA; FACIAL NERVE PARALYSIS; GENE MUTATION; HEART ATRIUM FIBRILLATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; LORDOSIS; MALE; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; OPHTHALMOPLEGIA; PATIENT COMPLIANCE; PRIORITY JOURNAL; PTOSIS; SKIN BIOPSY;

ADULT; AGE FACTORS; EPIDERMOLYSIS BULLOSA; HUMANS; MALE; MUSCULAR DYSTROPHIES; MUTATION; PLECTIN;

EID: 79959365537     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.22076     Document Type: Article

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