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Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient.

Neuromuscular disorders : NMD - 1 Jun 2021

Petrucci Antonio, Primiano Guido, Savarese Marco, Sancricca Cristina, Udd Bjarne, Servidei Serenella

Abstract excerpt

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,...

Topics

Female
Humans
Italy
Middle Aged
Mutation
Myopathies, Nemaline
Phenotype
Respiratory Insufficiency
Troponin T

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 33832840
DOI: 10.1016/j.nmd.2021.03.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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