A novel SCN4A mutation causing myotonia aggravated by cold and potassium
about
Practical aspects in the management of hypokalemic periodic paralysisTreatment for periodic paralysisMuscle channelopathies and critical points in functional and genetic studies.Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian familiesPhysiological and Pathophysiological Insights of Nav1.4 and Nav1.5 ComparisonChannelopathies of skeletal muscle excitabilityNav 1.4 slow-inactivation: is it a player in the warm-up phenomenon of myotonic disorders?The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.Neurological channelopathies: diagnosis and therapy in the new millennium.Defective fast inactivation recovery and deactivation account for sodium channel myotonia in the I1160V mutant.Genetic disorders of neuromuscular ion channels.Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective?Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.Pathophysiological role of omega pore current in channelopathiesThe primary periodic paralyses: diagnosis, pathogenesis and treatment.A quantitative measure of handgrip myotonia in non-dystrophic myotoniaSodium channelopathies of skeletal muscle result from gain or loss of function.Mutational consequences of aberrant ion channels in neurological disorders.Genotype phenotype associations across the voltage-gated sodium channel family.Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V.Phenotype and genotype in the myotonic disorders.Sodium Channelopathies of Skeletal Muscle.
P2860
Q21245474-3CE25310-8CCA-4B69-8AE2-1FF8E36050BAQ24242271-5362D714-5425-4D20-8671-B74DD2A09973Q24532297-A45B6671-8651-4099-8630-150CBD350C99Q24673082-F903CD60-0080-430C-BD19-EDE87B652FC5Q26772794-14AE3800-3325-43EB-8AC1-368E70910E79Q28082428-4CEFAEA4-DC01-47BB-83B2-68B8B1361703Q28284919-56655A6A-217D-45F1-9291-C8ACF834E221Q33570009-552E5999-F184-4FF0-AF69-86DA8E7FF1FFQ33841654-B33F06F8-AD7F-47F8-B013-426DC1B87A16Q33907568-35454362-4E8F-45A7-82BD-9EB2EBE726F8Q34811193-5035B543-4F41-4837-94B3-FE250C225567Q35063865-8A05D3DD-A0D0-4ECD-82DA-71FF7AE1A404Q35145290-4CA54087-3139-43B9-9B6A-A7A02D43E5F6Q35643244-BDC67E63-E036-4990-A08B-8B5D4D41522CQ36022793-073B7923-B85A-487F-8922-D1898FD10569Q36272858-9448D6F1-2F2A-4C40-82E3-9571971CBA16Q36587121-44C83A04-5A5D-4C75-8984-D416561D48E3Q37711046-1FCDD388-4BB3-42B7-A02A-1F47D8CB6C1BQ38239544-69B299C5-1BCD-4795-9A03-BF612ADAAA4EQ38243946-D84ED390-E645-4D5B-87EE-9C80F6A6E64AQ39411250-1913DE4A-4FCE-42D1-9797-A2C49510DA9DQ39736202-612E2004-8032-46EE-8B72-F9FE442162C1Q40673389-E89FD0D1-F034-4C3B-897C-D3D70F419626Q47690301-894E853E-8B4B-4B8D-AE49-6E39AD48C1B5Q49908047-E4E49BF5-9329-4750-8108-2B9ACA33BCA8
P2860
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
description
1993 nî lūn-bûn
@nan
1993 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
@ast
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
@en
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
@nl
type
label
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
@ast
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
@en
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
@nl
prefLabel
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
@ast
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
@en
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
@nl
P2093
P356
P1476
A novel SCN4A mutation causing myotonia aggravated by cold and potassium
@en
P2093
P304
P356
10.1093/HMG/2.9.1349
P407
P577
1993-09-01T00:00:00Z