Genetic and phenotypic characteristics of 3 patients with limb-girdle muscular dystrophy: experience in a medical center in Mexico

Genetic and phenotypic characteristics of 3 patients with limb-girdle muscular dystrophy: experience in a medical center in Mexico

Abstract Introduction Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of genetically inherited muscular disorders. Due to the inherent phenotypic variation among different LGMD forms, clinical diagnosis remains challenging. Guidelines recommend targeted sequencing based on the clinica...

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Bibliographic Details
Main Authors: Valentina Martínez-Montoya, Alejandro Martínez-Herrera, Oscar Mancera-Páez, Alberto Hidalgo-Bravo, María R. Rivera-Vega
Format: Article
Language:English
Published: SpringerOpen 2025-03-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Limb-girdle muscular dystrophy
DYSF
CAPN3
Genetic variant
Characterization
Online Access:https://doi.org/10.1186/s43042-025-00685-9
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https://doi.org/10.1186/s43042-025-00685-9

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