Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) gene-Reference-Cited by-同舟云学术

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Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) gene

Published:2001-01 Issue:1 Volume:11 Page:35-40
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Jungbluth H,Sewry C.A,Brown S.C,Nowak K.J,Laing N.G,Wallgren-Pettersson C,Pelin K,Manzur A.Y,Mercuri E,Dubowitz V,Muntoni F

Publisher

Elsevier BV

Subject

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

Reference17 articles.

1. Assignment of a gene (NEM1) for autosomal-dominant nemaline myopathy to chromosome 1;Laing;Am J Hum Genet,1992

2. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal-dominant nemaline myopathy;Laing;Nat Genet,1995

3. Homozygosity for a nonsense mutation in the alpha-tropomyosin gene TPM3 in a patient with severe nemaline myopathy;Tan;Neuromusc Disord,1999

4. A gene for autosomal-recessive nemaline myopathy assigned to chromosome 2q by linkage analysis;Wallgren-Pettersson;Neuromusc Disord,1995

5. Refined localization of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal-recessive nemaline myopathy;Pelin;Eur J Hum Genet,1997

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1. Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center;Acta Neurologica Belgica;2023-07-31

2. Muscle magnetic resonance imaging involvement patterns in nemaline myopathies;Annals of Clinical and Translational Neurology;2023-06-02

3. Critical illness–associated weakness and related motor disorders;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023

4. A late presentation of TPM3 myopathy presenting as sleep hypoventilation in the setting of acute demyelinating encephalomyelitis;Journal of Clinical Sleep Medicine;2022-11

5. Early clinical and pre-clinical therapy development in Nemaline myopathy;Expert Opinion on Therapeutic Targets;2022-10-03

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