Severe Form of Salih Myopathy Caused by Combination of Two Heterozygous TTN Mutations

Salih myopathy is autosomal recessive hereditary early-onset myopathy with fatal cardiomyopathy. It is a rare and heterogeneous form of congenital titinopathies (TTN). Affected children have delayed motor development, normal mental development, and in further course dilated cardiomyopathy. Motor fun...

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Veröffentlicht in:	Balkan journal of medical genetics : BJMG 2023, Vol.26 (2), p.73-76
Hauptverfasser:	Milojković, M, Jarić, M, Stojanović, V, Barišić, N, Kavečan, I
Format:	Report
Sprache:	eng
Online-Zugang:	Volltext
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