Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: Broadening the clinical spectrum associated with the T704M mutation in SCN4A

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 74, Issue 9, 2003, Pages 1339-1341

  Brancati, F ^a,b   Valente, E M ^b   Davies, N P ^c   Sarkozy, A ^b   Sweeney, M G ^c   LoMonaco, M ^d   Pizzuti, A ^a   Hanna, M G ^c   Dallapiccola, B ^b  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d CATHOLIC UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

METHIONINE; THREONINE;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CODON; DATA ANALYSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; EXON; EYELID; FEMALE; GENE MUTATION; HAND; HUMAN; ITALY; MALE; PERIODIC PARALYSIS; PHENOTYPE; PRIORITY JOURNAL; SKELETAL MUSCLE; THOMSEN DISEASE;

EID: 0141740617     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.74.9.1339     Document Type: Article

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