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Author

I. Kraoua

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3 papers indexed here

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Sep 2026

Expanding the clinical and genetic spectrum of biallelic MYO18B pathogenic variants in congenital myopathy.

MYO18B is an unconventional class XVII myosin that is predominantly expressed in muscle and heart tissue. Recessive pathogenic MYO18B variants cause a rare myopathy associated with Klippel-Feil syndrome (KFS), facial dysmorphism, short stature and less frequently cardiomyopathy. Reported neuromuscular manifestations we...

I. Zaharieva, S. Donkervoort, Cheryl Longman et al. · 0 citations
Case report Open access Oct 2026

TTC21B: From Modifier to Causative Gene in Joubert Syndrome.

Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with...

Valentina Serpieri, F. D'Abrusco, A. Pichiecchio et al. · 0 citations
Open access Jul 2026

Integrated exome and mitochondrial genome sequencing reveals the genetic landscape of primary mitochondrial diseases: findings from a large Tunisian cohort.

The genetic spectrum of a Tunisian pediatric cohort with suspected mitochondrial diseases is described to describe the clinical and genetic spectrum of primary mitochondrial diseases in Tunisia, an underrepresented and admixed population.

Ismail Gouiza, A. Bouzidi, Meriem Hechmi et al. · 0 citations

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