Cytoplasmic body pathology in severe ACTA1 -related myopathy in the absence of typical nemaline rods-Reference-Cited by-同舟云学术

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Cytoplasmic body pathology in severe ACTA1 -related myopathy in the absence of typical nemaline rods

Published:2017-06 Issue:6 Volume:27 Page:531-536
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Donkervoort Sandra,Chan Sophelia H.S.,Hayes Leslie H.,Bradley Nathaniel,Nguyen David,Leach Meganne E.,Mohassel Payam,Hu Ying,Thangarajh Mathula,Bharucha-Goebel Diana,Kan Amanda,Ho Ronnie S.L.,Reyes Christine A.,Nance Jessica,Moore Steven A.,Foley A. Reghan,Bönnemann Carsten G.

Funder

NIH

NINDS

Iowa Wellstone Muscular Dystrophy Cooperative Research Center

Publisher

Elsevier BV

Subject

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

Reference24 articles.

1. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1);Laing;Hum Mutat,2009

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

3. The cytoplasmic body: another structural anomaly of the Z disk;Macdonald;Acta Neuropathol,1969

4. Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease;Vajsar;Neurology,1998

5. Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1;Schessl;Neuropediatrics,2010

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1. The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability;Biomedicines;2024-01-30

2. A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy;Neuromuscular Disorders;2024-01

3. Muscular phenotype description of abnormal THOC2 splicing;Neuromuscular Disorders;2023-12

4. Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects;Neuromuscular Disorders;2023-07

5. Comparison of incorporation of wild type and mutated actins into sarcomeres in skeletal muscle cells: A fluorescence recovery after photobleaching study;Cytoskeleton;2022-09

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