Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin-Reference-Cited by-同舟云学术

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin

Published:2021-06 Issue:6 Volume:31 Page:539-545
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Sagath Lydia,Lehtokari Vilma-Lotta,Välipakka Salla,Vihola Anna,Gardberg Maria,Hackman Peter,Pelin Katarina,Jokela Manu,Kiiski Kirsi,Udd Bjarne,Wallgren-Pettersson Carina

Funder

Sigrid Jusélius Foundation

Association Francaise contre les Myopathies

Finska Läkaresällskapet

Medicinska Understödsföreningen Liv och Hälsa rf

Muscular Dystrophy UK

Publisher

Elsevier BV

Subject

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

Reference25 articles.

1. Distal myopathy caused by homozygous missense mutations in the nebulin gene;Wallgren-Pettersson;Brain,2007

2. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy;Lehtokari;Neuromuscul Disord,2011

3. Core-rod myopathy caused by mutations in the nebulin gene;Romero;Neurology,2009

5. Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing;Scoto;Eur J Hum Genet,2013

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1. Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield;Scientific Reports;2024-02-21

2. Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study;Orphanet Journal of Rare Diseases;2023-11-30

3. Titin copy number variations associated with dominant inherited phenotypes;Journal of Medical Genetics;2023-11-07

4. Clinical Manifestation of Nebulin-Associated Nemaline Myopathy;Neurology Genetics;2023-02

5. Distal Muscular Dystrophies;Current Clinical Neurology;2023