| ZÍDKOVÁ, Jana, Tereza KRAMÁŘOVÁ, Johana KOPČILOVÁ, Kamila RÉBLOVÁ, Jana HABERLOVÁ, Radim MAZANEC, Stanislav VOHÁŇKA, Andrea GŘEGOŘOVÁ, Martina LANGOVÁ, Tomáš HONZÍK, Jana ŠOUKALOVÁ, Hana OŠLEJŠKOVÁ, Pavla SOLAŘOVÁ, Emilie VYHNÁLKOVÁ and Lenka FAJKUSOVÁ. Genetic findings in Czech patients with limb girdle muscular dystrophy. Clinical Genetics. Hoboken: Wiley, 2023, vol. 104, No 5, p. 542-553. ISSN 0009-9163. Available from: https://dx.doi.org/10.1111/cge.14407. |
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@article{2355821,
author = {Zídková, Jana and Kramářová, Tereza and Kopčilová, Johana and Réblová, Kamila and Haberlová, Jana and Mazanec, Radim and Voháňka, Stanislav and Gřegořová, Andrea and Langová, Martina and Honzík, Tomáš and Šoukalová, Jana and Ošlejšková, Hana and Solařová, Pavla and Vyhnálková, Emilie and Fajkusová, Lenka},
article_location = {Hoboken},
article_number = {5},
doi = {http://dx.doi.org/10.1111/cge.14407},
keywords = {genetic diagnostics; LGMD; limb girdle muscular dystrophy; next generation sequencing},
language = {eng},
issn = {0009-9163},
journal = {Clinical Genetics},
title = {Genetic findings in Czech patients with limb girdle muscular dystrophy},
url = {https://doi.org/10.1111/cge.14407},
volume = {104},
year = {2023}
}
TY - JOUR
ID - 2355821
AU - Zídková, Jana - Kramářová, Tereza - Kopčilová, Johana - Réblová, Kamila - Haberlová, Jana - Mazanec, Radim - Voháňka, Stanislav - Gřegořová, Andrea - Langová, Martina - Honzík, Tomáš - Šoukalová, Jana - Ošlejšková, Hana - Solařová, Pavla - Vyhnálková, Emilie - Fajkusová, Lenka
PY - 2023
TI - Genetic findings in Czech patients with limb girdle muscular dystrophy
JF - Clinical Genetics
VL - 104
IS - 5
SP - 542-553
EP - 542-553
PB - Wiley
SN - 00099163
KW - genetic diagnostics
KW - LGMD
KW - limb girdle muscular dystrophy
KW - next generation sequencing
UR - https://doi.org/10.1111/cge.14407
N2 - Limb girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of muscular dystrophies. The study presents an overview of molecular characteristics of a large cohort of LGMD patients who are representative of the Czech LGMD population. We present 226 LGMD probands in which 433 mutant alleles carrying 157 different variants with a supposed pathogenic effect were identified. Fifty-four variants have been described only in the Czech LGMD population so far. LGMD R1 caplain3-related is the most frequent subtype of LGMD involving 53.1% of patients with genetically confirmed LGMD, followed by LGMD R9 FKRP-related (11.1%), and LGMD R12 anoctamin5-related (7.1%). If we consider identified variants, then all but five were small-scale variants. One large gene deletion was identified in the LAMA2 gene and two deletions in each of CAPN3 and SGCG. We performed comparison our result with other published studies. The results obtained in the Czech LGMD population clearly differ from the outcome of other LGMD populations in two aspects-we have a more significant proportion of patients with LGMD R1 calpain3-related and a smaller proportion of LGMD R2 dysferlin-related.
ER -
ZÍDKOVÁ, Jana, Tereza KRAMÁŘOVÁ, Johana KOPČILOVÁ, Kamila RÉBLOVÁ, Jana HABERLOVÁ, Radim MAZANEC, Stanislav VOHÁŇKA, Andrea GŘEGOŘOVÁ, Martina LANGOVÁ, Tomáš HONZÍK, Jana ŠOUKALOVÁ, Hana OŠLEJŠKOVÁ, Pavla SOLAŘOVÁ, Emilie VYHNÁLKOVÁ and Lenka FAJKUSOVÁ. Genetic findings in Czech patients with limb girdle muscular dystrophy. \textit{Clinical Genetics}. Hoboken: Wiley, 2023, vol.~104, No~5, p.~542-553. ISSN~0009-9163. Available from: https://dx.doi.org/10.1111/cge.14407.
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