Why the study?
Due to the large size of the TTN gene, it has been difficult to sequence, and the number of variants and spectrum of titinopathies are probably underestimated.
Identifies a novel pathogenic TTN variant causing severe congenital myopathy, expanding the known spectrum of titinopathies.
Alerts clinicians to TTN in congenital myopathy; extends titinopathy spectrum while leaving broader applicability open.
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Balasundaram et al. (2023) studied this question.
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