Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy

Kód výsledku v 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>

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10608 - Biochemistry and molecular biology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2019

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Channels

ISSN

1933-6950

e-ISSN

—

Svazek periodika

13

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

9

Strana od-do

153-161

Kód UT WoS článku

000467823400001

EID výsledku v databázi Scopus

2-s2.0-85065771983