arginine and Batten Turner Congenital Myopathy

arginine has been researched along with Batten Turner Congenital Myopathy in 3 studies

Research

Studies (3)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	2 (66.67)	18.2507
2000's	1 (33.33)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Damiani, E; Drögemüller, C; Drögemüller, M; Gentile, A; Leeb, T; Mascarello, F; Rossi, M; Sacchetto, R; Testoni, S	1
Dubowitz, V; Lehmann-Horn, F; Lerche, H; Mitrovic, N	1
Bendahhou, S; Cummins, TR; Kwiecinski, H; Ptácek, LJ; Waxman, SG	1

Trials

1 trial(s) available for arginine and Batten Turner Congenital Myopathy

Article	Year
Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans. The Journal of physiology, 1999, Jul-15, Volume: 518 ( Pt 2) Topics: Amino Acid Substitution; Arginine; Cell Line; DNA; Electrophysiology; Humans; Kidney; Kinetics; Male; Membrane Potentials; Myotonia Congenita; Patch-Clamp Techniques; Pedigree; Phenotype; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Sodium Channels	1999

Article

Year

Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans.

The Journal of physiology, 1999, Jul-15, Volume: 518 ( Pt 2)

Topics: Amino Acid Substitution; Arginine; Cell Line; DNA; Electrophysiology; Humans; Kidney; Kinetics; Male; Membrane Potentials; Myotonia Congenita; Patch-Clamp Techniques; Pedigree; Phenotype; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Sodium Channels

1999

Other Studies

2 other study(ies) available for arginine and Batten Turner Congenital Myopathy

Article	Year
Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease. Genomics, 2008, Volume: 92, Issue:6 Topics: Amino Acid Sequence; Animals; Arginine; Cattle; Disease Models, Animal; DNA Mutational Analysis; Female; Humans; Isaacs Syndrome; Male; Molecular Sequence Data; Mutation, Missense; Myotonia Congenita; Pedigree; Physical Conditioning, Animal; Sarcoplasmic Reticulum Calcium-Transporting ATPases	2008
Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle. Annals of neurology, 1996, Volume: 39, Issue:5 Topics: Adult; Arginine; Biopsy; Cold Temperature; Female; Hot Temperature; Humans; Ion Channel Gating; Isometric Contraction; Microelectrodes; Muscle Weakness; Muscle, Skeletal; Myotonia Congenita; Patch-Clamp Techniques; Point Mutation; Proline; Sodium Channels; Walking	1996

Article

Year

Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.

Genomics, 2008, Volume: 92, Issue:6

Topics: Amino Acid Sequence; Animals; Arginine; Cattle; Disease Models, Animal; DNA Mutational Analysis; Female; Humans; Isaacs Syndrome; Male; Molecular Sequence Data; Mutation, Missense; Myotonia Congenita; Pedigree; Physical Conditioning, Animal; Sarcoplasmic Reticulum Calcium-Transporting ATPases

2008

Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle.

Annals of neurology, 1996, Volume: 39, Issue:5

Topics: Adult; Arginine; Biopsy; Cold Temperature; Female; Hot Temperature; Humans; Ion Channel Gating; Isometric Contraction; Microelectrodes; Muscle Weakness; Muscle, Skeletal; Myotonia Congenita; Patch-Clamp Techniques; Point Mutation; Proline; Sodium Channels; Walking

1996