Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61388963%3A_____%2F19%3A00505495" target="_blank" >RIV/61388963:_____/19:00505495 - isvavai.cz</a>
Result on the web
<a href="https://www.tandfonline.com/doi/full/10.1080/19336950.2019.1614415" target="_blank" >https://www.tandfonline.com/doi/full/10.1080/19336950.2019.1614415</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1080/19336950.2019.1614415" target="_blank" >10.1080/19336950.2019.1614415</a>
Alternative languages
Result language
angličtina
Original language name
Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy
Original language description
Neuromuscular disorders encompass a wide range of conditions often associated with a genetic component. In the present study, we report a patient with severe infantile-onset amyotrophy in whom two compound heterozygous variants in the gene CACNA1H encoding for Ca(v)3.2 T-type calcium channels were identified. Functional analysis of Ca(v)3.2 variants revealed several alterations of the gating properties of the channel that were in general consistent with a loss-of-channel function. Taken together, these findings suggest that severe congenital amyoplasia may be related to CACNA1H and would represent a new phenotype associated with mutations in this gene.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10608 - Biochemistry and molecular biology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Channels
ISSN
1933-6950
e-ISSN
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Volume of the periodical
13
Issue of the periodical within the volume
1
Country of publishing house
US - UNITED STATES
Number of pages
9
Pages from-to
153-161
UT code for WoS article
000467823400001
EID of the result in the Scopus database
2-s2.0-85065771983