Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic

Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic

Spinal muscular atrophy (SMA) is a progressive genetic neuromuscular condition affecting spinal motor neurons. The underlying cause of SMA is deletions or mutations in the SMN gene. It is classified into five variants based on age and clinical manifestations of the patient. In this report, we presen...

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Bibliographic Details
Main Authors: María Belén Martín-Sanz, Delvis Lucas-Muñoz, Manuel Colomé-Hidalgo
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Neuroscience
Subjects:
spinal muscular atrophy (SMA)
type I
SMN1
Werdnig Hoffmann disease
motor neuron disease, progressive muscular atrophies
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2024.1476977/full
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