Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene
Muscle Nerve
.
2022 Oct;66(4):E13-E15.
doi: 10.1002/mus.27678.
Epub 2022 Jul 27.
Authors
Paloma Martín-Jiménez
1
,
Carlos Pablo de Fuenmayor-Fernández de la Hoz
2
3
,
Aurelio Hernández-Laín
4
,
Ana Arteche-López
5
,
Juan Francisco Quesada-Espinosa
5
,
Ana Hernández Voth
6
,
Ana Vesperinas
7
,
Montse Olivé
7
8
,
Cristina Domínguez-González
2
3
8
Affiliations
1
Neuromuscular Disorders Unit, Department of Neurology, 12 de Octubre University Hospital, Madrid, Spain.
2
Neuromuscular Disorders Unit, Department of Neurology, Madrid, Spain.
3
Research Institute imas12, 12 de Octubre University Hospital, Madrid, Spain.
4
Neuromuscular Disorders Unit, Department of Pathology (Neuropathology), 12 de Octubre University Hospital, Madrid, Spain.
5
Department of Genetics. UDISGEN-Unidad de Dismorfología y Genética, 12 de Octubre University Hospital, Madrid, Spain.
6
Neuromuscular Disorders Unit, Mechanical Ventilation Unit, Department of Neumology, 12 de Octubre University Hospital, Madrid, Spain.
7
Neuromuscular Disorders Unit, Department of Neurology, Santa Creu i Sant Pau University Hospital, Barcelona, Spain.
8
Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
PMID:
35833674
DOI:
10.1002/mus.27678
No abstract available
Publication types
Letter
MeSH terms
Adult
Homozygote
Humans
Muscle, Skeletal
Myopathies, Nemaline* / genetics
Troponin T
Substances
Troponin T