Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M)

Journal of AAPOS

Volumn 13, Issue 5, 2009, Pages 526-527

  Wakeman, Bradley ^a,b,c   MacDonald, Ian M ^a,b,c   Ginjaar, Ieke ^a,b,c   Tarleton, Jack ^a,b,c   Babu, Deepti ^a,b,c  

^a UNIVERSITY OF ALBERTA   (Canada)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Fullerton Genetics Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; ION CHANNEL;

AUTOSOMAL DOMINANT DISORDER; CLCN1 GENE; ELECTROMYOGRAPHY; EXTRAOCULAR MUSCLE; EYELID; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; LETTER; MUSCLE HYPERTROPHY; PRIORITY JOURNAL; SCN4 GENE; SKELETAL MUSCLE; THOMSEN DISEASE;

HUMANS; MUTATION, MISSENSE; MYOTONIA CONGENITA; OCULOMOTOR MUSCLES; SODIUM CHANNELS;

EID: 70349943993     PISSN: 10918531     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaapos.2009.07.001     Document Type: Letter

References (5)

1. Wakeman B., Babu D., Tarleton J., and MacDonald I. Extraocular muscle hypertrophy in myotonia congenita. J AAPOS 12 (2008) 294-296
2. Sun C., Tranebjaerg L., Torbergsen T., Holmgren G., and van Ghelue M. Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. Eur J Hum Genet 9 (2001) 903-909
3. Trip J., Drost G., Verbove D.J., van der Kooi A.J., Kuks J.B., Notermans N.C., et al. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. Eur J Hum Genet 16 (2008) 921-929
4. Rosenfeld J., Sloan-Brown K., and George Jr. A.L. A novel muscle sodium channel mutation causes painful congenital myotonia. Ann Neurol 42 (1997) 811-814
5. Trip J., Drost G., Ginjaar I., Nieman F., van der Kooi A.J., de Visser M., et al. Redefining the clinical phenotypes of non-dystrophic myotonic syndromes. J Neurol Neurosurg Psychiatry 80 (2009) 647-652