A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification

Neuromuscular Disorders

Volumn 16, Issue 5, 2006, Pages 321-324

  Ferriby, D ^a   Stojkovic, T ^a   Sternberg, D ^b   Hurtevent, J F ^a   Hurtevent, J P ^a   Vermersch, P ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

Paramyotonia; Phenotype; Sodium channel; V1589M

Indexed keywords

ADENINE; AMINO ACID; COMPLEMENTARY DNA; GUANINE; METHIONINE; SODIUM CHANNEL; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; COLD; EXERCISE; FACE MUSCLE; FEMALE; FRANCE; GENETIC ASSOCIATION; HEAT; HUMAN; LEG MUSCLE; MISSENSE MUTATION; MUSCLE STIFFNESS; MUSCLE WEAKNESS; MYOTONIA; NUCLEOTIDE SEQUENCE; PARALYSIS; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; THOMSEN DISEASE;

ADOLESCENT; AMINO ACID SUBSTITUTION; CHROMOSOME DISORDERS; COLD; DNA MUTATIONAL ANALYSIS; EXERCISE; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; INHERITANCE PATTERNS; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION, MISSENSE; MYOTONIC DISORDERS; PARALYSIS; PEDIGREE; PHENOTYPE; SODIUM CHANNELS;

EID: 33646170186     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.01.015     Document Type: Article

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