A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis

Neuroscience Letters

Volumn 519, Issue 1, 2012, Pages 67-72

  Kokunai, Yosuke ^a   Goto, Keigo ^b   Kubota, Tomoya ^a   Fukuoka, Takaaki ^b   Sakoda, Saburo ^a,c   Ibi, Tohru ^d   Doyu, Manabu ^b   Mochizuki, Hideki ^a   Sahashi, Ko ^b   Takahashi, Masanori P ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b AICHI MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c TONEYAMA NATIONAL HOSPITAL   (Japan)

^d AICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

Electrophysiology; Myasthenia gravis; Na channel; NaV1.4; Patch clamp; Skeletal muscle

Indexed keywords

SODIUM CHANNEL NAV1.4;

ADULT; ARTICLE; CASE REPORT; DEPOLARIZATION; EXERCISE TEST; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MUSCLE HYPEREXCITABILITY; MUSCULOSKELETAL SYSTEM PARAMETERS; MUTANT; MYASTHENIA GRAVIS; MYOTONIA; PRIORITY JOURNAL; SODIUM CHANNEL MYOTONIA; SODIUM CHANNELOPATHY;

ADULT; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; MYASTHENIA GRAVIS; MYOTONIA; POLYMORPHISM, SINGLE NUCLEOTIDE; SODIUM CHANNELS;

EID: 84861827743     PISSN: 03043940     EISSN: 18727972     Source Type: Journal    
DOI: 10.1016/j.neulet.2012.05.023     Document Type: Article

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