Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort.

doi:10.1177/22143602241313119

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Article

Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort.

Journal of neuromuscular diseases - 1 May 2025

Baskar Dipti, Vengalil Seena, Polavarapu Kiran, Preethish-Kumar Veeramani, Nashi Saraswati, Arunachal Gautham, Srivastava Kosha, Desai Vaishnavi, Thomas Priya Treesa, Keerthipriya Muddasu Suhasini, Huddar Akshata, Unnikrishnan Gopikrishnan, Anjanappa Ram Murthy, Nalini Atchayaram

Abstract excerpt

INTRODUCTION: Titinopathies are heterogenous group of disorders affecting the skeletal and cardiac muscles variably and caused by Titin (TTN) gene mutations located in Chromosome 2. The manifestations extend from congenital to adult-onset myopathies. Here we describe the phenotype-genotype heterogeneity of patients with myopathy/muscular dystrophy associated with TTN variants in an Indian cohort. METHODS: A...

Topics

Humans
Connectin
Male
Female
Adult
India
Phenotype
Adolescent
Young Adult
Child
Retrospective Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Child, Preschool

Infant

Genetic Heterogeneity

Mutation

Muscular Diseases

Muscular Dystrophies

Cohort Studies

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Identifiers

PMID: 40033712
DOI: 10.1177/22143602241313119
PMCID: PMC13142828

Genes

Variants

Provenance

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

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