March 18, 1997Proceedings of the National Academy of Sciences
A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel
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Population
Mammalian cell lines and Xenopus oocytes expressing recombinant human muscle Cl- channel
Comparison
G230E mutation in hClC-1 vs Wild-type hClC-1
Design
Preclinical
Authors
Discussion
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Implication
Hypothesis-generating for G230E mechanism in myotonia congenita; human validation required before any clinical consideration.
Structured PICO
P
Population
Mammalian cell lines (tsA201 and HEK-293) and Xenopus oocytes expressing recombinant human muscle Cl- channel (hClC-1)
I
Intervention
G230E mutation in hClC-1
C
Comparator
Wild-type hClC-1
O
Outcome
Pore properties, including anion and cation selectivity, and current-voltage relationship rectificationsurrogate
The G230E mutation alters the pore properties and ion selectivity of the skeletal muscle chloride channel, suggesting a novel mechanism for autosomal dominant myotonia congenita.
Limitations
- Inability to distinguish low current amplitudes caused by intrinsic channel dysfunction from decreased cell surface expression due to low single channel conductance (<1 pS).
Cite This Study
Fahlke et al. (1997) studied this question.
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