Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin

Neuromuscular Disorders

Volumn 20, Issue 11, 2010, Pages 709-711

  Forrest, Katharine ^a   Mellerio, Jemima E ^b,c   Robb, Stephanie ^b   Dopping Hepenstal, Patricia J C ^c   Mcgrath, John A ^d   Liu, Lu ^c   Buk, Stefan J A ^e   Al Sarraj, Safa ^e   Wraige, Elizabeth ^a   Jungbluth, Heinz ^a,d  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

Congenital muscular dystrophy; Congenital myasthenic syndromes; Plectin (PLEC1) gene

Indexed keywords

3,4 DIAMINOPYRIDINE; PLECTIN; PYRIDOSTIGMINE;

ADD ON THERAPY; ARTICLE; BLISTER; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE MUTATION; HUMAN; MALE; MUSCLE STRENGTH; MUSCULAR DYSTROPHY; MYASTHENIA; NERVE STIMULATION; ONSET AGE; PRIORITY JOURNAL; SCHOOL CHILD;

CHILD; EPIDERMOLYSIS BULLOSA SIMPLEX; HUMANS; MALE; MUSCULAR DYSTROPHIES; MUTATION; PLECTIN;

EID: 77957752741     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.06.003     Document Type: Article

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