ArticleJournal of neuromuscular diseases2025
Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort.
Article in Journal of neuromuscular diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
introductionTitinopathies are heterogenous group of disorders affecting the skeletal and cardiac muscles variably and caused by Titin (
methodsA retrospective descriptive study of 12 patients diagnosed with primary muscle disease evaluated between 2016 and 2023 harboring rare
resultsEight patients were included (M:F ratio - 3:1). The median age at onset of entire cohort is 5 (range: birth- 33 years). The major clinical phenotypes were congenital myopathy [n = 3, 37.5%], juvenile onset myopathy [n = 3, 37.5%] and adult AD - Hereditary myopathy with early respiratory failure (HMERF) phenotype [n = 2, P6, P8; 25%]. Prominent / wide first interdigital space in feet in congenital and juvenile forms (c.38421_38437delinsC, c.106531 + 1G > A) was a novel feature. The variant c.95134T > C previously reported in HMERF in British population, was noted in two patients in our cohort and with GNE myopathy like phenotype in one. Muscle MRI done in congenital myopathy (c.26201-1G > A) showed fatty infiltration of anterior and posterior thigh with sparing of gracilis, adductor magnus and tibialis anterior.
conclusionThis is the first Indian study with a large cohort demonstrating many novel mutations and clinical heterogeneity expanding the spectrum of titinopathies.
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