A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features
Abstract: Mitochondrial DNA (mtDNA)-related diseases often pose a diagnostic challenge and require rigorous clinical and laboratory investigation. Pathogenic variants in the mitochondrial tRNA gene MT-TY, which encodes the tRNATyr, are a rare cause of mitochondrial disease. Here we describe a novel m.5860delTA anticodon variant in the MT-TY gene in a patient who initially presented with features akin to a childhood onset myasthenic syndrome. Using histochemical, immunohistochemical and protein studies we demonstrate that this mutation leads to severe biochemical defects of mitochondrial translation, which is reflected in the early onset and progressive phenotype. This case highlights the clinical overlap between mtDNA-related diseases and other neuromuscular disorders, and demonstrates the potential pitfalls in analysis of next generation sequencing results, given whole exome sequencing of a blood DNA sample failed to make a genetics diagnosis. Muscle biopsy remains an important requirement in the diagnosis of mitochondrial disease and in establishing the pathogenicity of novel mtDNA variants
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
Neuromuscular disorders. - 30, 8 (2020) , 661-668, ISSN: 1873-2364
- Schlagwort
-
Mitochondriopathie
Cytoplasmatisch vererbte männliche Sterilität
- Ereignis
-
Veröffentlichung
- (wo)
-
Freiburg
- (wer)
-
Universität
- (wann)
-
2020
- Urheber
-
Lim, Albert Z.
McMacken, Grace M.
Rastelli, Francesca
Oláhová, Monika
Baty, Karen
Hopton, Sila
Falkous, Gavin
Töpf, Ana
Lochmüller, Hanns
Marini-Bettolo, Chiara
McFarland, Robert
Taylor, Robert W.
- DOI
-
10.1016/j.nmd.2020.06.008
- URN
-
urn:nbn:de:bsz:25-freidok-1674235
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:51 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Lim, Albert Z.
- McMacken, Grace M.
- Rastelli, Francesca
- Oláhová, Monika
- Baty, Karen
- Hopton, Sila
- Falkous, Gavin
- Töpf, Ana
- Lochmüller, Hanns
- Marini-Bettolo, Chiara
- McFarland, Robert
- Taylor, Robert W.
- Universität
Entstanden
- 2020
Ähnliche Objekte (12)
Economic costs of Myasthenia Gravis: a systematic review
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
The TREAT‐NMD DMD global database: analysis of more than 7,000 duchenne muscular dystrophy mutations
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
Recommendations for improving the quality of rare disease registries
The medical action ontology: a tool for annotating and analyzing treatments and clinical management of human disease
Clinical outcomes in Duchenne Muscular Dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice
Economic costs of Myasthenia Gravis: a systematic review
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
The TREAT‐NMD DMD global database: analysis of more than 7,000 duchenne muscular dystrophy mutations
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
Recommendations for improving the quality of rare disease registries
The medical action ontology: a tool for annotating and analyzing treatments and clinical management of human disease
Clinical outcomes in Duchenne Muscular Dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice
Economic costs of Myasthenia Gravis: a systematic review
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
The TREAT‐NMD DMD global database: analysis of more than 7,000 duchenne muscular dystrophy mutations
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
Recommendations for improving the quality of rare disease registries
The medical action ontology: a tool for annotating and analyzing treatments and clinical management of human disease
Clinical outcomes in Duchenne Muscular Dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy