Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)-Reference-Cited by-同舟云学术

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)

Published:2016-10 Issue:10 Volume:26 Page:712-716
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Seferian Andreea M.,Malfatti Edoardo,Bosson Caroline,Pelletier Laurent,Taytard Jessica,Forin Veronique,Gidaro Teresa,Gargaun Elena,Carlier Pierre,Fauré Julien,Romero Norma B.,Rendu John,Servais Laurent

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference21 articles.

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3. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy;Nowak;Nat Genet,1999

4. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2;Agrawal;Am J Hum Genet,2007

5. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy;Lehtokari;Hum Mutat,2006

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1. A Novel Splice Site Variant in <i>KLHL40</i> Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability;Molecular Syndromology;2024-08-13

3. Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy;Frontiers in Genetics;2023-03-21

4. A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism;Human Molecular Genetics;2022-11-02

5. Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization;International Journal of Molecular Sciences;2022-10-09