Key result
Two heterozygous TTN mutations linked to severe Salih myopathy requiring continuous mechanical ventilation from birth.
Case Report (n=1)
No
This case illustrates that Salih myopathy can present severely from birth with continuous need for mechanical ventilation and multiple fractures, without the typical motor improvement.
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May prompt TTN testing in severe neonatal myopathy; leaves open the full phenotypic spectrum of Salih myopathy.
Milojković et al. (2023) conducted a case report in Salih myopathy (n=1). Compound heterozygous TTN mutations (c.15218-2A>G and c.56572C>T) was evaluated on Clinical presentation and genetic diagnosis. A combination of two heterozygous TTN mutations caused a severe form of Salih myopathy presenting from birth with continuous necessity for mechanical ventilation and no motor improvement.
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