Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
Biopsy
Child, Preschool
Computational Biology
/ methods
Female
Genetic Association Studies
/ methods
Genetic Predisposition to Disease
High-Throughput Nucleotide Sequencing
Homozygote
Humans
Immunohistochemistry
Infant
Mutation
Myopathies, Nemaline
/ diagnosis
Phenotype
Sequence Analysis, DNA
Sequence Deletion
Troponin T
/ genetics
diagnosis
neuromuscular diseases
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
09 2021
09 2021
Historique:
received:
15
11
2019
revised:
12
06
2020
accepted:
05
07
2020
pubmed:
1
10
2020
medline:
23
2
2022
entrez:
30
9
2020
Statut:
ppublish
Résumé
Congenital nemaline myopathies are rare pathologies characterised by muscle weakness and rod-shaped inclusions in the muscle fibres. Using next-generation sequencing, we identified three patients with pathogenic variants in the The clinical phenotype was similar in all patients, associating hypotonia, orthopaedic deformities and progressive chronic respiratory failure, leading to early death. The anatomopathological phenotype was characterised by a disproportion in the muscle fibre size, endomysial fibrosis and nemaline rods. Molecular analyses of The clinical and anatomopathological presentations of our patients reinforce the homogeneous character of the phenotype associated with recessive
Sections du résumé
BACKGROUND
Congenital nemaline myopathies are rare pathologies characterised by muscle weakness and rod-shaped inclusions in the muscle fibres.
METHODS
Using next-generation sequencing, we identified three patients with pathogenic variants in the
RESULTS
The clinical phenotype was similar in all patients, associating hypotonia, orthopaedic deformities and progressive chronic respiratory failure, leading to early death. The anatomopathological phenotype was characterised by a disproportion in the muscle fibre size, endomysial fibrosis and nemaline rods. Molecular analyses of
DISCUSSION
The clinical and anatomopathological presentations of our patients reinforce the homogeneous character of the phenotype associated with recessive
Identifiants
pubmed: 32994279
pii: jmedgenet-2019-106714
doi: 10.1136/jmedgenet-2019-106714
pmc: PMC8394741
doi:
Substances chimiques
Troponin T
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
602-608Informations de copyright
© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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