‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene-Reference-Cited by-同舟云学术

‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene

Published:2019-10 Issue:10 Volume:29 Page:766-770
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

D'Amico Adele,Fattori Fabiana,Fiorillo Chiara,Paglietti Maria Giovanna,Testa Maria Beatrice Chiarini,Verardo Margherita,Catteruccia Michela,Bruno Claudio,Bertini Enrico

Publisher

Elsevier BV

Subject

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

Reference25 articles.

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2. Identification of KLHL41 mutations implicates BTB-Kelch-Mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy;Gupta;Am J Hum Genet,2013

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

4. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant;Sandaradura;Hum Mutat,2018

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

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1. A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del);Genes & Genomics;2024-02-16

2. WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy;Annals of Clinical and Translational Neurology;2023-08-25

3. Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy;Journal of Human Genetics;2022-11-29

4. Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala);Human Mutation;2022-05-11

5. Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings;Neuromuscular Disorders;2022-03