Indexed keywords
MEXILETINE;
ADULT;
ANAMNESIS;
ARTICLE;
BECKER MUSCULAR DYSTROPHY;
BLOOD ANALYSIS;
CASE REPORT;
CLINICAL FEATURE;
DNA SEQUENCE;
ELECTROMYOGRAM;
ELECTROPHYSIOLOGY;
EXON;
FEMALE;
FOLLOW UP;
GENE MUTATION;
GENETIC SCREENING;
HUMAN;
INTRON;
MUSCLE BIOPSY;
MUSCLE STIFFNESS;
MUSCLE WEAKNESS;
NEUROLOGIC EXAMINATION;
PRIORITY JOURNAL;
PROVOCATION TEST;
SEQUENCE ANALYSIS;
THOMSEN DISEASE;
TREATMENT OUTCOME;
UNSPECIFIED SIDE EFFECT;
DIAGNOSIS, DIFFERENTIAL;
ELECTROMYOGRAPHY;
FEMALE;
GENES, RECESSIVE;
HUMANS;
MEXILETINE;
MIDDLE AGED;
MUSCLE WEAKNESS;
MUSCLE, SKELETAL;
MYOTONIA CONGENITA;
NEUROLOGIC EXAMINATION;
1
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Decrement of compound muscle action potential is related to mutation type in myotonia congenita
Colding-Jorgensen E (2003) Decrement of compound muscle action potential is related to mutation type in myotonia congenita. Muscle Nerve 27: 449-455
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2
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Phenotypic variability in myotonia congenita
Colding-Jorgensen E (2005) Phenotypic variability in myotonia congenita. Muscle Nerve 32: 19-34
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Muscle Nerve , vol.32
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Colding-Jorgensen, E.1
3
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Syndromes associated with myotonia: Clinical-genetic classification
(Ed. Rowland LP) New York: Excerpta Medica
Becker PE (1977) Syndromes associated with myotonia: Clinical-genetic classification. In Pathogenesis of human muscular dystrophies, 699-703 (Ed. Rowland LP) New York: Excerpta Medica
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Becker, P.E.1
4
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The skeletal muscle channelopathies: Basic science, clinical genetics and treatment
Davies NP and Hanna MG (2001) The skeletal muscle channelopathies: Basic science, clinical genetics and treatment. Curr Opin Neurol 14: 539-551
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Curr Opin Neurol , vol.14
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Davies, N.P.1
Hanna, M.G.2
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Neurological channelopathies
Graves TD and Hanna MG (2005) Neurological channelopathies. Postgrad Med J 81: 20-32
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Postgrad Med J , vol.81
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Graves, T.D.1
Hanna, M.G.2
6
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Transient weakness and compound muscle action potential decrement in myotonia congenita
Deymeer F et al. (1998) Transient weakness and compound muscle action potential decrement in myotonia congenita. Muscle Nerve 21: 1334-1337
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Muscle Nerve , vol.21
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Deymeer, F.1
7
0029993232
Channelopathies: The nondystrophic myotonias and periodic paralyses
Lehmann-Horn F and Rudel R (1996) Channelopathies: The nondystrophic myotonias and periodic paralyses. Semin Pediatr Neurol 3: 122-139
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Semin Pediatr Neurol , vol.3
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Lehmann-Horn, F.1
Rudel, R.2
8
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Expanded CUG repeats trigger aberrant splicing of CLC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscles in myotonic dystrophy
Mankodi A et al. (2002) Expanded CUG repeats trigger aberrant splicing of CLC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscles in myotonic dystrophy. Mol Cell 10: 35-44
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Mol Cell , vol.10
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Mankodi, A.1
9
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AAEE minimonograph #27: Differential diagnosis of myotonic syndromes
Streib EW (1987) AAEE minimonograph #27: Differential diagnosis of myotonic syndromes. Muscle Nerve 10: 603-615
(1987)
Muscle Nerve , vol.10
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Streib, E.W.1
10
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Skeletal muscle channelopathies
Jurkat-Rott et al. (2002) Skeletal muscle channelopathies. J Neurol 249: 1493-1502
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J Neurol , vol.249
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Jurkat-Rott1
11
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The familial periodic paralyses and nondystrophic myotonias
Ptacek L (1998) The familial periodic paralyses and nondystrophic myotonias Am J Med 105: 58-70
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Am J Med , vol.105
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Ptacek, L.1
12
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Electromyography guides toward subgroups of mutations in muscle channelopathies
Fournier E et al. (2004) Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 56: 650-661
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Ann Neurol , vol.56
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Fournier, E.1
13
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Distinguishing paramyotonia congenita and myotonia congenita by electromyography
Subramony SH et al. (1983) Distinguishing paramyotonia congenita and myotonia congenita by electromyography. Muscle Nerve 6: 374-379
(1983)
Muscle Nerve , vol.6
, pp. 374-379
Subramony, S.H.1
14
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2+ ATPase, are associated with Brody disease
2+ ATPase, are associated with Brody disease. Nat Genet 14: 191-194
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Nat Genet , vol.14
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Odermatt, A.1
16
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Myotonia caused by mutations in the muscle chloride channel gene CLCN1
Pusch M (2002) Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Hum Mutat 19: 423-434
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Hum Mutat , vol.19
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Pusch, M.1
17
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Treatment in myotonia and periodic paralysis
Meola G and Sansone V (2004) Treatment in myotonia and periodic paralysis. Rev Neurol (Paris) 160 (5 Pt 2): S55-S69
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Rev Neurol (Paris) , vol.160
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Meola, G.1
Sansone, V.2
18
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Anaesthetic complications associated with myotonia congenita: Case study and comparison with other myotonic disorders
Farbu E et al. (2003) Anaesthetic complications associated with myotonia congenita: Case study and comparison with other myotonic disorders. Acta Anaesthesiol Scand 47: 630-634
(2003)
Acta Anaesthesiol Scand , vol.47
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Farbu, E.1
