Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.

doi:10.1136/jmedgenet-2019-106714

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Article

Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.

Journal of medical genetics - 1 Sept 2021

Géraud Justine, Dieterich Klaus, Rendu John, Uro Coste Emmanuelle, Dobrzynski Murielle, Marcorelle Pascale, Ioos Christine, Romero Norma Beatriz, Baudou Eloise, Brocard Julie, Coville Anne-Cécile, Fauré Julien, Koenig Michel, Juntas Morales Raul, Lacène Emmanuelle, Madelaine Angéline, Marty Isabelle, Pegeot Henri, Theze Corinne, Siegfried Aurore, Cossee Mireille, Cances Claude

Abstract excerpt

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 Troponin T type 1 (TNNT1) gene, coding for the troponin T (TNT) skeletal muscle isoform. RESULTS: The clinical phenotype was similar in all patients, associating...

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Identifiers

PMID: 32994279
DOI: 10.1136/jmedgenet-2019-106714
PMCID: PMC8394741

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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