Clinical utility gene card for: Nemaline myopathy - update 2015.

作者信息

Nowak Kristen J, Davis Mark R, Wallgren-Pettersson Carina, Lamont Phillipa J, Laing Nigel G

机构信息

Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.

Department of Diagnostic Genomics, Neurogenetics Laboratory, QEII Medical Centre, Nedlands, Western Australia, Australia.

出版信息

Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.12. Epub 2015 Feb 25.

DOI:10.1038/ejhg.2015.12

PMID:25712079

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4613474/

Abstract

摘要

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Clinical utility gene card for: Nemaline myopathy - update 2015.

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[6]

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[7]

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本文引用的文献

[1]

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

J Clin Invest. 2014-11

[2]

Mutation update: the spectra of nebulin variants and associated myopathies.

Hum Mutat. 2014-12

[3]

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.

Eur J Hum Genet. 2015-6

[4]

Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.

Neuromuscul Disord. 2014-12

[5]

Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree.

Mol Genet Genomic Med. 2013-12-12

[6]

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.

J Neurol Neurosurg Psychiatry. 2014-9

[7]

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

Am J Hum Genet. 2013-11-21

[8]

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

Am J Hum Genet. 2013-6-6

[9]

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.

Eur J Hum Genet. 2013-2-27

[10]

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

Brain. 2013-2

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Clinical utility gene card for: Nemaline myopathy - update 2015.

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