Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation-Reference-Cited by-同舟云学术

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Published:2019-05-27 Issue:1 Volume:9 Page:
ISSN:2044-5040
Container-title:Skeletal Muscle
language:en
Short-container-title:Skeletal Muscle

Author:

Merlini Luciano,Sabatelli Patrizia,Antoniel Manuela,Carinci Valeria,Niro Fabio,Monetti Giuseppe,Torella Annalaura,Giugliano Teresa,Faldini Cesare,Nigro Vincenzo

Funder

PRIN

EU project Solve-RD

Fondazione Telethon

Publisher

Springer Science and Business Media LLC

Subject

Cell Biology,Molecular Biology,Orthopedics and Sports Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13395-019-0199-9.pdf

Reference18 articles.

1. Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, et al. Biallelic mutations in MYPN, encoding myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy. Am J Hum Genet. 2017;100(1):169–78.

2. Cuisset JM, Maurage CA, Pellissier JF, Barois A, Urtizberea JA, Laing N, Tajsharghi H, Vallee L. ‘Cap myopathy’: case report of a family. Neuromuscul Disord. 2006;16(4):277–81.

3. Lornage X, Malfatti E, Cheraud C, Schneider R, Biancalana V, Cuisset JM, Garibaldi M, Eymard B, Fardeau M, Boland A, et al. Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. Ann Neurol. 2017;81(3):467–73.

4. Bang ML, Mudry RE, McElhinny AS, Trombitas K, Geach AJ, Yamasaki R, Sorimachi H, Granzier H, Gregorio CC, Labeit S. Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies. J Cell Biol. 2001;153(2):413–27.

5. Duboscq-Bidot L, Xu P, Charron P, Neyroud N, Dilanian G, Millaire A, Bors V, Komajda M, Villard E. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 2008;77(1):118–25.

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2. Myopalladin knockout mice develop cardiac dilation and show a maladaptive response to mechanical pressure overload;ELIFE;2021

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