IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit

Neuromuscular Disorders

Volumn 15, Issue 11, 2005, Pages 753-759

  Fidzianska, Anna ^a   Ryniewicz, B ^b   Shen, Xing Ming ^c   Engel, Andrew G ^c  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

^c MAYO CLINIC   (United States)

Author keywords

Acetylcholine receptor; Inclusion body myopathy; Inclusion body myositis; Slow channel syndrome; Tubulofilamentous inclusions

Indexed keywords

CHOLINERGIC RECEPTOR; PHENYLALANINE; RECEPTOR SUBUNIT;

ADULT; ANALYTIC METHOD; ANAMNESIS; ARTICLE; CASE REPORT; CELL INCLUSION; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; FAMILY HISTORY; FEMALE; GENE MUTATION; HUMAN; INCLUSION BODY MYOSITIS; MOLECULAR GENETICS; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; MYASTHENIA GRAVIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SKELETAL MUSCLE; STRUCTURE ANALYSIS;

ACETYLCHOLINE; ADULT; BUNGAROTOXINS; CELL LINE; DNA MUTATIONAL ANALYSIS; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; HUMANS; IODINE ISOTOPES; MEMBRANE POTENTIALS; MICROSCOPY, ELECTRON, TRANSMISSION; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; MYOSITIS, INCLUSION BODY; PATCH-CLAMP TECHNIQUES; PROTEIN BINDING; RADIOLIGAND ASSAY; RECEPTORS, NICOTINIC; TRANSFECTION; VALINE;

EID: 26944489220     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2005.07.009     Document Type: Article

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