Clinical, Pathological, and Genetic Features of Two Chinese Cases with Filamin C Myopathy

Overview

Journal Chin Med J (Engl)

Specialty General Medicine

Date 2018 Dec 13

PMID 30539912

Citations 5

Authors

Yu-Tong Zhang

Chuan-Qiang Pu

Rui Ban

Hua-Xu Liu

Qiang Shi

Xiang-Hui Lu

Affiliations

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Citing Articles

Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.

Sellung D, Heil L, Daya N, Jacobsen F, Mertens-Rill J, Zhuge H Cells. 2023; 12(9).

PMID: 37174721 PMC: 10177260. DOI: 10.3390/cells12091321.

The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.

Wadmore K, Azad A, Gehmlich K Int J Mol Sci. 2021; 22(6).

PMID: 33802723 PMC: 8002584. DOI: 10.3390/ijms22063058.

The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy".

Schanzer A, Schumann E, Zengeler D, Gulatz L, Maroli G, Ahting U J Muscle Res Cell Motil. 2021; 42(2):381-397.

PMID: 33710525 DOI: 10.1007/s10974-021-09601-1.

Structure and Function of Filamin C in the Muscle Z-Disc.

Mao Z, Nakamura F Int J Mol Sci. 2020; 21(8).

PMID: 32295012 PMC: 7216277. DOI: 10.3390/ijms21082696.

A mutation update for the FLNC gene in myopathies and cardiomyopathies.

Verdonschot J, Vanhoutte E, Claes G, Helderman-van den Enden A, Hoeijmakers J, Hellebrekers D Hum Mutat. 2020; 41(6):1091-1111.

PMID: 32112656 PMC: 7318287. DOI: 10.1002/humu.24004.

References

Thompson T, Chan Y, Hack A, BROSIUS M, Rajala M, Lidov H . Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. J Cell Biol. 2000; 148(1):115-26. PMC: 3207142. DOI: 10.1083/jcb.148.1.115. View

Vorgerd M, van der Ven P, Bruchertseifer V, Lowe T, Kley R, Schroder R . A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet. 2005; 77(2):297-304. PMC: 1224531. DOI: 10.1086/431959. View

Lowe T, Kley R, van der Ven P, Himmel M, Huebner A, Vorgerd M . The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy. Hum Mol Genet. 2007; 16(11):1351-8. DOI: 10.1093/hmg/ddm085. View

Kley R, Hellenbroich Y, van der Ven P, Furst D, Huebner A, Bruchertseifer V . Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain. 2007; 130(Pt 12):3250-64. DOI: 10.1093/brain/awm271. View

Luan X, Hong D, Zhang W, Wang Z, Yuan Y . A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family. Neuromuscul Disord. 2010; 20(6):390-6. DOI: 10.1016/j.nmd.2010.03.009. View