The constantly evolving spectrum of phenotypes in titinopathies – will it ever stop?
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical),Neurology
Reference43 articles.
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4. Tibial muscular dystrophy (TMD) is a titinopathy: caused by mutations in TTN, the gene encoding the giant skeletal muscle protein titin;Hackman;Am J Hum Genet,2002
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1. Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene;Neuromuscular Disorders;2024-04
2. Titin related myopathy with ophthalmoplegia. A novel phenotype;Neuromuscular Disorders;2023-07
3. Successful heart transplant in a child with congenital core myopathy and delayed‐onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene;Pediatric Transplantation;2023-06-22
4. LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD;Journal of Neuromuscular Diseases;2023-01-03
5. Muscle Imaging in Muscular Dystrophies;Current Clinical Neurology;2023
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