Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

Neuromuscular Disorders

Volumn 23, Issue 12, 2013, Pages 998-1009

  Bauché, Stéphanie ^a,b,c,d   Boerio, Delphine ^e   Davoine, Claire Sophie ^a,b,c   Bernard, Véronique ^b,c,f   Stum, Morgane ^a,b,c   Bureau, Cécile ^a,b,c   Fardeau, Michel ^a   Romero, Norma Beatriz ^a,g   Fontaine, Bertrand ^a,b,c,g   Koenig, Jeanine ^a,b,c   Hantaï, Daniel ^a,b,c,g   Gueguen, Antoine ^h   Fournier, Emmanuel ^a,b,c,g   Eymard, Bruno ^a,b,c,g   Nicole, Sophie ^a,b,c  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c CNRS   (France)

^d PSL RESEARCH UNIVERSITY   (France)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f INSERM   (France)

^g ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^h Service de Neurologie   (France)

Author keywords

Basement membrane; Muscle stiffness; Neuromuscular junction; Peripheral nerve hyperexcitability; Perlecan; Schwartz Jampel syndrome

Indexed keywords

ACETYLCHOLINESTERASE; PERLECAN;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; ELECTROMYOGRAPHY; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MUSCLE ACTION POTENTIAL; MUSCLE DENERVATION; MUSCLE REINNERVATION; NERVE CONDUCTION; NERVE ENDING; NERVE EXCITABILITY; NERVE POTENTIAL; NERVE SPROUTING; NEUROMUSCULAR DISEASE; NEUROMUSCULAR TRANSMISSION; NONMYELINATED NERVE; PERIPHERAL NEUROPATHY; POSTSYNAPTIC POTENTIAL; PRIORITY JOURNAL; PROTEIN DEPLETION; SCHWARTZ JAMPEL SYNDROME;

BASEMENT MEMBRANE; MUSCLE STIFFNESS; NEUROMUSCULAR JUNCTION; PERIPHERAL NERVE HYPEREXCITABILITY; PERLECAN; SCHWARTZ-JAMPEL SYNDROME;

ADULT; CALCIUM-BINDING PROTEINS; ELECTROMYOGRAPHY; HUMANS; MALE; MYELIN BASIC PROTEIN; NEURAL CONDUCTION; NEUROFILAMENT PROTEINS; NEUROMUSCULAR JUNCTION; OSTEOCHONDRODYSPLASIAS; PERIPHERAL NERVES; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, ERBB-3; RECEPTORS, CHOLINERGIC; S100 PROTEINS;

EID: 84888412020     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.07.005     Document Type: Article

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