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

Indian cohort. J Neuromuscul Dis. 2025 Mar 3:22143602241313119

PMID: 40033712

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.

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