A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family-Reference-Cited by-同舟云学术

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family

Published:2022-10-11 Issue:2 Volume:68 Page:107-109
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Ahmad Ilyas^ORCID,Khan Ayaz,Noor Ul Ayan Hafiza,Budde Birgit,Altmüller Janine,Korejo Asad Aslam,Nürnberg Gudrun,Thiele Holger,Tariq Muhmmad^ORCID,Nürnberg Peter,Erdmann Jeanette

Funder

institutional funding, University of Lübeck, Lübeck, Germany

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s10038-022-01085-2.pdf

Reference6 articles.

1. Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, et al. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain. 2017;140:37–48.

2. Ramzan S, Tennstedt S, Tariq M, Khan S, Noor Ul Ayan H, Ali A, et al. A novel missense mutation in TNNI3K causes recessively inherited cardiac conduction disease in a consanguineous Pakistani family. Genes (Basel). 2021;12:1282.

3. Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, et al. Genetic heterogeneity in Pakistani microcephaly families revisited. Clin Genet. 2017;92:62–8.

4. Liu TC, Huang CJ, Chu YC, Wei CC, Chou CC, Chou MY, et al. Cloning and expression of ZAK, a mixed lineage kinase-like protein containing a leucine-zipper and a sterile-alpha motif. Biochem Biophys Res Commun. 2000;274:811–6.

5. Bloem LJ, Pickard TR, Acton S, Donoghue M, Beavis RC, Knierman MD, et al. Tissue distribution and functional expression of a cDNA encoding a novel mixed lineage kinase. J Mol Cell Cardiol. 2001;33:1739–50.

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