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17 de sept. de 1999 · DM1 is caused by expansion of a CTG trinucleotide repeat in the noncoding region of DMPK. The diagnosis of DM1 is suspected in individuals with characteristic muscle weakness and is confirmed by molecular genetic testing of DMPK. CTG repeat length exceeding 34 repeats is abnormal.
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Myotonic Dystrophy Type 1: Genes and Databases. An official...
- Myotonic Dystrophy
Myotonic dystrophy type 1 (DM1) was first described over a...
- NKX2-1-Related Disorders
The diagnosis of NKX2-1 -related disorders is established in...
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3 de abr. de 2024 · MPDU1 (Mannose-P-Dolichol Utilization Defect 1) is a Protein Coding gene. Diseases associated with MPDU1 include Congenital Disorder Of Glycosylation, Type If and Developmental And Epileptic Encephalopathy 36 .
Provided to YouTube by The Orchard EnterprisesDefect 1: Gene (Remix) · Tom Ze · Sasha Frere-JonesPost Modern Platos℗ 1999 Luaka Bop, Inc.Released on: 1999-07...
20 de feb. de 2014 · The diagnosis of NKX2-1 -related disorders is established in a proband with a heterozygous pathogenic variant in NKX2-1 identified by molecular genetic testing. Management. Treatment of manifestations: Tetrabenazine, deutetrabenazine, or valbenazine starting at low doses and gradually increasing to control chorea.
12 de dic. de 2003 · Severe ZSD (previously called Zellweger syndrome [ZS]) typically presents in the neonatal period with profound hypotonia, characteristic facies, gyral malformations, seizures, inability to feed, renal cysts, hepatic dysfunction, and chondrodysplasia punctata.
16 de mar. de 2023 · A number sign (#) is used with this entry because of evidence that oocyte/zygote/embryo maturation arrest-1 (OZEMA1) is caused by homozygous or compound heterozygous mutation in the ZP1 gene on chromosome 11q12.
7 de may. de 2009 · Combined immunodeficiency disease is a rare familial disorder that can be caused by mutations in a variety of genes. 1,2 A principal feature of most cases of combined immunodeficiency disease...
