Expert consensus on preimplantation genetic testing for spinal muscular atrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 129-134, 2022.
Artículo
en Chino
| WPRIM
| ID: wpr-928374
ABSTRACT
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron degenerative disease, which is the most common fatal neuromuscular disease in pediatrics with a high carrier frequency and can lead to progressive symmetrical muscle weakness and atrophy of the trunk and limbs. Preimplantation genetic testing (PGT) can be used to prevent the birth of children with SMA effectively. To standardize PGT technologies for SMA, experts from the fields of neurology, pediatrics and reproductive genetics have discussed and drafted this consensus for guiding its clinical application.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Atrofia Muscular Espinal
/
Pruebas Genéticas
/
Consenso
/
Proteína 1 para la Supervivencia de la Neurona Motora
Tipo de estudio:
Guía de Práctica Clínica
Límite:
Niño
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Artículo
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