Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1-Reference-Cited by-同舟云学术

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Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1

Published:2019-03 Issue:3 Volume:29 Page:247-250
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Hernandez-Lain Aurelio,Cantero Diana,Camacho-Salas Ana,Toldos Oscar,Esteban Isabel,Pascual Ignacio,Dominguez-Gonzalez Cristina^ORCID

Funder

ISCIII

Publisher

Elsevier BV

Subject

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

Reference8 articles.

1. Actinopathies and myosinopathies;Goebel;Brain Pathol,2009

2. Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms;Nowak;Acta Neuropathol,2013

3. Actinmyopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn);Schröder;Acta Neuropathol,2004

4. Association of a novel ACTA1 mutation with a dominant progressive scapuloperoneal myopathy in an extended family;Zukosky;JAMA Neurol,2015

5. Autosomal dominant distal myopathy due to a novel ACTA1 mutation;Liewluck;Neuromuscul Disord,2017

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Rodlet cells in kidney of goldfish (Carassius auratus, Linnaeus 1758): A light and confocal microscopy study;Acta Histochemica;2022-04

2. Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores;Neuromuscular Disorders;2021-02

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