一种与心肌病和骨骼肌受累相关的新型纯合子ALPK3变异体。 - Suppr | 超能文献

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A novel homozygous ALPK3 variant associated with cardiomyopathy and skeletal muscle involvement.一种与心肌病和骨骼肌受累相关的新型纯合子ALPK3变异体。

Muscle Nerve. 2022 Mar;65(3):E7-E10. doi: 10.1002/mus.27471. Epub 2021 Dec 16.

2

[ALPK3 gene-related pediatric cardiomyopathy with craniofacial-skeletal features: a report and literature review].[伴有颅面骨骼特征的ALPK3基因相关小儿心肌病：一例报告及文献综述]

Zhonghua Er Ke Za Zhi. 2021 Sep 2;59(9):787-792. doi: 10.3760/cma.j.cn112140-20210222-00150.

3

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.在一名患有儿科心肌病和颜面骨骼特征的突尼斯患者中发现了新型 ALPK3 突变。

J Hum Genet. 2018 Oct;63(10):1077-1082. doi: 10.1038/s10038-018-0492-1. Epub 2018 Jul 25.

4

Hereditary inclusion-body myopathy associated with cardiomyopathy: report of two siblings.遗传性包涵体肌病伴心肌病：两例同胞兄妹的报告。

Muscle Nerve. 2011 Jan;43(1):133-6. doi: 10.1002/mus.21839.

5

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.先天性肌病伴大脚趾悬垂，系由肌联蛋白（MYPN）基因突变所致。

Skelet Muscle. 2019 May 27;9(1):14. doi: 10.1186/s13395-019-0199-9.

6

Cardiomyopathy in α-kinase 3 (ALPK3)-deficient mice.α-激酶 3（ALPK3）缺陷型小鼠的心肌病。

Vet Pathol. 2012 Jan;49(1):131-41. doi: 10.1177/0300985811402841. Epub 2011 Mar 25.

7

Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy.新型杂合截断肌联蛋白变异影响 A 带与心肌病和肌病/肌肉营养不良有关。

Mol Genet Genomic Med. 2020 Oct;8(10):e1460. doi: 10.1002/mgg3.1460. Epub 2020 Aug 20.

8

gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.一名患有先天性心肌病和畸形特征患者的基因突变。

Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). doi: 10.1101/mcs.a001859. Print 2017 Sep.

9

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.由患者来源的诱导多能干细胞和突变型人类胚胎干细胞产生的 ALPK3 缺陷型心肌细胞表现出异常的钙处理，并证实 ALPK3 缺陷是家族性心肌病的基础。

Eur Heart J. 2016 Sep 1;37(33):2586-90. doi: 10.1093/eurheartj/ehw160. Epub 2016 Apr 22.

10

BAG3 myopathy is not always associated with cardiomyopathy.BAG3 肌病并不总是伴有心肌病。

Neuromuscul Disord. 2018 Sep;28(9):798-801. doi: 10.1016/j.nmd.2018.06.019. Epub 2018 Jul 5.

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