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Cited article:

Genetic Panel Reveals Coexisting Neuromuscular Disorders in Patients With Duchenne Muscular Dystrophy

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Journal of Child Neurology 40 (2) 83 (2025)
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Biallelic truncating TTN variants in M‐band encoding exons cause a fetal lethal titinopathy

Ming‐wei Li, Fan Li, Zhen‐xing Cheng, Jin Cheng, Quan Wu, Zhi‐xin Wang, Fei Wang and Ping Zhou
Prenatal Diagnosis 44 (1) 81 (2024)
https://doi.org/10.1002/pd.6491

Une approche clinico-biologique intégrée pour interpréter la pathogénicité des variants du gène de la titine

Aurélien Perrin, Raul Juntas-Morales and Mireille Cossée
Les Cahiers de Myologie (21) 9 (2020)
https://doi.org/10.1051/myolog/202021002

New variant of necklace fibres display peculiar lysosomal structures and mitophagy

Jan Leo Rinnenthal, Carsten Dittmayer, Kerstin Irlbacher, et al.
Neuromuscular Disorders 28 (10) 846 (2018)
https://doi.org/10.1016/j.nmd.2018.06.010