August 8, 2013Experimental NeurologyOpen Access

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

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Population

Transfected HEK293 cells expressing hClC-1 mutants derived from patients with recessive myotonia congenita

Comparison

Expression of specific hClC-1 mutations and in… vs Wild-type hClC-1 or comparison between different…

Design

Preclinical

Authors

JDJean‐François DesaphyUniversity of Bari Aldo Moro GGGianluca GramegnaApple (Israel)CAConcetta AltamuraUniversity of Bari Aldo Moro

Discussion

Member takes

Implication

May support variant-specific management in myotonia congenita; leaves open human translation from animal models.

Structured PICO

Population

Transfected HEK293 cells expressing hClC-1 mutants (G190S, F167L, A531V, P558S, and others) derived from patients with recessive myotonia congenita

Intervention

Expression of specific hClC-1 mutations (G190S, F167L, A531V, P558S) and in vitro application of acetazolamide

Comparator

Wild-type hClC-1 or comparison between different mutations

Outcome

Chloride currents and channel expression measured via patch-clampsurrogate

Different ClC-1 mutations in myotonia congenita exhibit distinct molecular defects, explaining the variable clinical and neurophysiologic phenotypes observed in patients.

Cite This Study

Desaphy et al. (2013) studied this question.

synapsesocial.com/papers/6a968f812d8f86faeeb2ed68 https://doi.org/10.1016/j.expneurol.2013.07.018

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Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider