New mutation of the Na channel in the severe form of potassium-aggravated myotonia

Muscle and Nerve

Volumn 39, Issue 5, 2009, Pages 666-673

  Kubota, Tomoya ^a   Kinoshita, Masanobu ^b   Sasaki, Ryogen ^c   Aoike, Futoshi ^a   Takahashi, Masanori P ^a   Sakoda, Saburo ^a   Hirose, Kazuhiko ^d  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b TOKYO METROPOLITAN UNIVERSITY   (Japan)

^c MIE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d Ueno Hospital   (Japan)

Author keywords

C terminus; EF hand; Myotonia permanens; Skeletal muscle; Sodium channel

Indexed keywords

ADENOSINE TRIPHOSPHATASE; AMINO ACID; CALCIUM; DNA; EOSIN; HEMATOXYLIN; POTASSIUM; SODIUM CHANNEL;

ARTICLE; CELL CULTURE; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; ELECTRIC POTENTIAL; ELECTROMYOGRAPHY; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MUSCLE BIOPSY; MYOTONIA; PH MEASUREMENT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION; SITE DIRECTED MUTAGENESIS;

ADENOSINE TRIPHOSPHATASES; ADULT; BIOPHYSICS; CELL LINE, TRANSFORMED; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRIC STIMULATION; ELECTROMYOGRAPHY; FAMILY HEALTH; FEMALE; GLUTAMIC ACID; GLUTAMINE; HUMANS; ION CHANNEL GATING; JAPAN; MALE; MEMBRANE POTENTIALS; MIDDLE AGED; MODELS, MOLECULAR; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; MYOTONIC DISORDERS; PATCH-CLAMP TECHNIQUES; SODIUM CHANNELS; TRANSFECTION;

EID: 65949098914     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21155     Document Type: Article

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