Absence of β-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy-Reference-Cited by-同舟云学术

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Absence of β-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy

Published:2009-02 Issue:2 Volume:19 Page:118-123
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Monnier Nicole,Lunardi Joel,Marty Isabelle,Mezin Paulette,Labarre-Vila Annick,Dieterich Klaus,Jouk Pierre Simon

Publisher

Elsevier BV

Subject

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

Reference32 articles.

1. Mutations in the beta-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy;Donner;Neuromuscul Disord,2002

2. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2;Lehtokari;Neuromuscul Disord,2007

3. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2);Tajsharghi;Arch Neurol,2007

4. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes;Sung;Am J Hum Genet,2003

5. Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation;Tajsharghi;Neurology,2007

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2. Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an example;Minerva Pediatrics;2024-02

3. Muscle Diseases With Prominent Joint Contractures.;Reference Module in Neuroscience and Biobehavioral Psychology;2024

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5. Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome;Genes;2022-09-27

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