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Article

Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings.

Clinical genetics - 1 May 2025

Sharkova Inna, Borovikov Artem, Konovalov Fedor, Nefedova Maria, Shchagina Olga, Kutsev Sergey, Murtazina Aysylu

Abstract excerpt

We present a family with two male siblings diagnosed with a newly described digenic myopathy, involving likely pathogenic loss-of-function variants in the SRPK3 and TTN genes: hemizygous p.(Pro68ArgfsTer55) and heterozygous p.(Trp14174Ter), respectively. Both siblings experienced prenatal disease onset, characterized by weak fetal movements, but showed significant clinical improvement over two last years of our...

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Identifiers

PMID: 39667923
DOI: 10.1111/cge.14673

Genes

SRPK3
TTN

Variants

Provenance

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