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Article

Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).

Muscle & nerve - 1 Apr 2016

Abdulhaq Ulla Najwa, Daana Mohannad, Dor Talia, Fellig Yakov, Eylon Sharon, Schuelke Markus, Shaag Avraham, Elpeleg Orly, Edvardson Simon

Abstract excerpt

INTRODUCTION: Nemaline myopathy is a rare disorder characterized by skeletal muscle weakness of varying severity and onset, with the presence of nemaline rods on muscle biopsy. Congenital nemaline body myopathy due to mutations in TNNT1 has hitherto only been described as a result of a single founder mutation in patients of Amish origin and in 2 other individuals with different recessive mutations. METHODS:...

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Source

Identifiers

PMID: 26296490
DOI: 10.1002/mus.24885

Genes

TNNT1

Variants

Provenance

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

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Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).PMID 26296490Read ↗

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A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.Semantic proximity Read ↗

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