Associated Papers
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
40000157 (PubMed )
Supplement: CGE-108-318-s003.docx
Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.
Al-Hedaithy A et al.
Scientific Reports, 2025
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.
Nallamilli BRR et al.
Annals of Clinical and Translational Neurology, 2023
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
Gurgel-Giannetti J et al.
International Journal of Molecular Sciences, 2022
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.
Vogt J et al.
Clinical Genetics, 2020
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Davidson AE et al.
Brain : a Journal of Neurology, 2013
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