Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient.
Neuromuscul Disord
; 31(6): 532-538, 2021 06.
Article
em En
| MEDLINE
| ID: mdl-33832840
ABSTRACT
Mutations in the TNNT1 gene cause an infantile, lethal form of myopathy named "Amish" Nemaline Myopathy. Adult patients are very rarely described. We report a 49-year-old patient who presented a slowly progressive phenotype characterized by myalgia, exercise intolerance and dyspnea since infancy. In adult life she lapsed into a coma as a result of acute respiratory failure, with the need of tracheostomy, subsequently removed once her respiratory condition improved. Afterwards, non-invasive ventilation was started. Short stature, contractures, a small size posterior cranial fossa and osteonecrosis were additional clinical findings. Muscle MRI showed minor hypotrophy and degenerative changes of the muscles of the posterior thigh compartment and involvement of the paraspinal, medial gastrocnemius and soleus muscles with sparing of the gracilis muscle. Muscle biopsy revealed multiminicores and nemaline rods. Genetic analysis identified a new pathogenetic biallelic deletion c.786delG p.(Lys263Serfs*36) in exon 13 of TNNT1 gene. This case confirms that recessive mutations in TNNT1 gene can manifest mainly with respiratory failure in adult life.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Miopatias da Nemalina
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Troponina T
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Mutação
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limite:
Female
/
Humans
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Middle aged
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article