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Main Library
9 a.m. - 8 p.m.
Phone: (843) 805-6930
West Ashley Library
9 a.m. – 7 p.m.
Phone: (843) 766-6635
Folly Beach Library
Closed for renovations
Phone: (843) 588-2001
John L. Dart Library
9 a.m. – 7 p.m.
Phone: (843) 722-7550
St. Paul's/Hollywood Library
9 a.m. - 8 p.m.
Phone: (843) 889-3300
Mt. Pleasant Library
9 a.m. – 8 p.m.
Phone: (843) 849-6161
Dorchester Road Library
9 a.m. - 8 p.m.
Phone: (843) 552-6466
Edgar Allan Poe/Sullivan's Island Library
9 a.m. - 6 p.m.
Phone: (843) 883-3914
John's Island Library
9 a.m. – 8 p.m.
Phone: (843) 559-1945
McClellanville Library
Closed for renovations
Phone: (843) 887-3699
Edisto Library
9 a.m. - 6 p.m.
Phone: (843) 869-2355
Wando Mount Pleasant Library
9 a.m. - 8 p.m.
Phone: (843) 805-6888
Otranto Road Library
9 a.m. - 8 p.m.
Phone: (843) 572-4094
Hurd/St. Andrews Library
9 a.m. - 8 p.m.
Phone: (843) 766-2546
Baxter-Patrick James Island
9 p.m. - 8 p.m.
Phone: (843) 795-6679
Bees Ferry West Ashley Library
9 a.m. - 8 p.m.
Phone: (843) 805-6892
Village Library
9 a.m. - 6 p.m.
Phone: (843) 884-9741
Keith Summey North Charleston Library
9 a.m. – 8 p.m.
Phone: (843) 744-2489
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9 a.m. - 5 p.m.
Phone: (843) 805-6909
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Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.
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- Author(s): Brancati, F.; Davies, E.M.; Sarkozy, A.; Sweeney, M.G.; M. LoMonaco, M.G.; Pizzuti, A.; Hanna, M.G.; Dallapiccola, B.
- Source:
Journal of Medical Genetics; Jan2004, Vol. 41 Issue 1, p41-41, 1/3p- Subject Terms:
- Source:
- Additional Information
- Subject Terms:
- Abstract: Describes an Italian kindred with nine individuals affected by hyperkalemic periodic paralysis associated with paramyotonia congenita. Severe periodic paralysis with several episodes a day lasting for hours; Observation that the paralytic episodes were refractory to treatment; Minimal paramyotonia, mainly of the eyelids and hands; Finding that all affected family members carried the threonine to methionine substitution at codon 704 in exon 13 of the skeletal muscle voltage gated sodium channel gene.
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