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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Muscular Atrophy, Spinal
/
Genetic Testing
/
Consensus
/
Survival of Motor Neuron 1 Protein
Type of study:
Practice guideline
Limits:
Child
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article
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