Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Polina Pilus"'
Autor:
Polina Pilus, Hendrik Milting, M. S. Kharlap, A. V. Kiseleva, Viktoria Kozlova, Sergey Koretskiy, Caroline Stanasiuk, O. V. Kulikova, Alexey N Meshkov, Oxana Drapkina, R. P. Myasnikov, Andreas Brodehl, Anna Gärtner, Elena Mershina, Evgeniia Sotnikova, Sergey Boytsov, Valentin Sinitsyn, Mikhail G. Divashuk
Publikováno v:
Genes
Genes, Vol 12, Iss 121, p 121 (2021)
Volume 12
Issue 1
Genes, Vol 12, Iss 121, p 121 (2021)
Volume 12
Issue 1
Here, we present a small Russian family, where the index patient received a diagnosis of left-ventricular non-compaction cardiomyopathy (LVNC) in combination with a skeletal myopathy. Clinical follow-up analysis revealed a LVNC phenotype also in her
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94b5de981d0f01524e9405aea2988d41
http://europepmc.org/articles/PMC7835827
http://europepmc.org/articles/PMC7835827
Autor:
O. V. Kulikova, Oxana Drapkina, Stephan Schubert, Valentin Sinitsyn, Hendrik Milting, Bärbel Klauke, Maria Kudryavtseva, Brenda Gerull, Kai Thorsten Laser, Anna Gärtner, Jan Gummert, Elena Mershina, Alexey N Meshkov, Mikhail G. Divashuk, A. V. Kiseleva, Karin Klingel, Sergey Boytsov, Evgeniia Sotnikova, Greta Marie Pohl, Sergey Koretskiy, Polina Pilus, R. P. Myasnikov, Andreas Brodehl, Caroline Stanasiuk, Anastasia Zharikova
Publikováno v:
International Journal of Molecular Sciences
Volume 22
Issue 7
International Journal of Molecular Sciences, Vol 22, Iss 3786, p 3786 (2021)
Volume 22
Issue 7
International Journal of Molecular Sciences, Vol 22, Iss 3786, p 3786 (2021)
About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce1db2879cd3fc46099cde0036d4e39e
https://doi.org/10.3390/ijms22073786
https://doi.org/10.3390/ijms22073786