Detail
Article
Online article
FT
Medvik - BMC
  • Something wrong with this record ?

Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy

MT. Carter, HJ. McMillan, A. Tomin, N. Weiss,

. 2019 ; 13 (1) : 153-161. [pub] -

Language English Country United States

Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc20023375

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 Cav3.2 T-type calcium channels were identified. Functional analysis of Cav3.2 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.

References provided by Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc20023375
003      
CZ-PrNML
005      
20201214125858.0
007      
ta
008      
201125s2019 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1080/19336950.2019.1614415 $2 doi
035    __
$a (PubMed)31070086
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Carter, Melissa T $u a Children's Hospital of Eastern Ontario Research Institute , University of Ottawa , Ottawa , Ontario , Canada.
245    10
$a Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy / $c MT. Carter, HJ. McMillan, A. Tomin, N. Weiss,
520    9_
$a 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 Cav3.2 T-type calcium channels were identified. Functional analysis of Cav3.2 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.
650    _2
$a brachiální neuritida $x genetika $x patofyziologie $7 D020968
650    _2
$a vápníkové kanály - typ T $x chemie $x genetika $x fyziologie $7 D020747
650    _2
$a elektrofyziologie $7 D004594
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a heterozygot $7 D006579
650    _2
$a lidé $7 D006801
650    _2
$a kojenec $7 D007223
650    12
$a missense mutace $7 D020125
650    _2
$a fenotyp $7 D010641
650    _2
$a sekvenování exomu $7 D000073359
655    _2
$a kazuistiky $7 D002363
655    _2
$a časopisecké články $7 D016428
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a McMillan, Hugh J $u a Children's Hospital of Eastern Ontario Research Institute , University of Ottawa , Ottawa , Ontario , Canada.
700    1_
$a Tomin, Andriy $u b Institute of Organic Chemistry and Biochemistry , Czech Academy of Sciences , Prague , Czech Republic.
700    1_
$a Weiss, Norbert $u b Institute of Organic Chemistry and Biochemistry , Czech Academy of Sciences , Prague , Czech Republic.
773    0_
$w MED00182173 $t Channels (Austin, Tex.) $x 1933-6969 $g Roč. 13, č. 1 (2019), s. 153-161
856    41
$u https://pubmed.ncbi.nlm.nih.gov/31070086 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20201125 $b ABA008
991    __
$a 20201214125857 $b ABA008
999    __
$a ok $b bmc $g 1595694 $s 1114051
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2019 $b 13 $c 1 $d 153-161 $e - $i 1933-6969 $m Channels $n Channels $x MED00182173
LZP    __
$a Pubmed-20201125

Find record

Citation metrics

Archiving options