Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco

Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco

Abstract Background Congenital muscular dystrophies (CMD) and congenital myopathies (CM) are clinically and genetically heterogeneous groups of neuromuscular disorders resulting in prenatal or early-onset hypotonia, muscle weakness, myogenic pattern, and dystrophic or myopathic features on muscle bi...

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Bibliographic Details
Main Authors: Youssef El Kadiri, Ilham Ratbi, Mouna Ouhenach, Siham Chafai Elalaoui, Imane Cherkaoui Jaouad, Abdelali Zrhidri, Maryem Sahli, Nazha Birouk, Abdelaziz Sefiani, Jaber Lyahyai
Format: Article
Language:English
Published: SpringerOpen 2023-05-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Congenital muscular dystrophy
Congenital myopathy
Neonatal hypotonia
Moroccan patients
Expanding the phenotypic and mutation spectrum
Online Access:https://doi.org/10.1186/s43042-023-00416-y

Internet

https://doi.org/10.1186/s43042-023-00416-y

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