A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.
about
Dissection of Z-disc myopalladin gene network involved in the development of restrictive cardiomyopathy using system genetics approachNext generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthMolecular etiology of arthrogryposis in multiple families of mostly Turkish origin.Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy.A Zebrafish Model for a Human Myopathy Associated with Mutation of the Unconventional Myosin MYO18B.Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice.Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.
P2860
Q33623284-C6B2A52F-F012-460C-8982-08652B95CF17Q36292736-0F4C2A8D-12FA-4993-9D7B-9C70B7B0310FQ36515048-62CF73E5-64D0-49B2-A0C1-5AE569E02B92Q37058036-B2F64326-94B3-4DA2-9E27-DEE1F6F64A30Q37589691-FE2F2F91-EB18-4317-AB9A-459C96D17AB5Q47074148-9A7B5FAD-87C6-49A4-AF29-D3D42F3AECCFQ47205244-3C46E35B-66C1-406E-A32A-4F35F5CF3223Q47265892-1C8608B8-47EB-4F36-91A7-26791DA6382EQ47735755-1A5CF09A-CCA1-48FF-A6E5-B7CABDB4FB5BQ51158820-DFE70853-E82A-4FA6-B517-F6D2A396738D
P2860
A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
A novel syndrome of Klippel-Fe ...... to a null mutation in MYO18B.
@en
type
label
A novel syndrome of Klippel-Fe ...... to a null mutation in MYO18B.
@en
prefLabel
A novel syndrome of Klippel-Fe ...... to a null mutation in MYO18B.
@en
P2093
P2860
P1476
A novel syndrome of Klippel-Fe ...... d to a null mutation in MYO18B
@en
P2093
Amal Y Kentab
Anas M Alazami
Eissa Faqeih
Hisham Alkhalidi
Jawahir Y Mohamed
P2860
P304
P356
10.1136/JMEDGENET-2014-102964
P407
P577
2015-03-06T00:00:00Z