Article
Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder.
Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2022
Rochdi Khaoula, Cerino Mathieu, Da Silva Nathalie, Delague Valerie, Bouzidi Aymane, Nahili Halima, Zouiri Ghizlane, Kriouile Yamna, Gorokhova Svetlana, Bartoli Marc, Saïle Rachid, Barakat Abdelhamid, Krahn Martin
Abstract excerpt
BACKGROUND AND AIMS: The identification of underlying genes of genetic conditions has expanded greatly in the past decades, which has broadened the field of genes responsible for inherited neuromuscular diseases. We aimed to investigate mutations associated with neuromuscular disorders phenotypes in 2 Moroccan families. MATERIAL AND METHODS: Next-generation sequencing combined with Sanger sequencing could assist...
Topics
- Heredodegenerative Disorders, Nervous System
- Humans
- Morocco
- Mutation
- Neuromuscular Diseases
- Phenotype
- Spinocerebellar Degenerations