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Arthrogryposis: a review and update

Arthrogryposis: a review and update

http://www.wikidata.org/entity/Q24644127

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ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis Gpr126 is essential for peripheral nerve development and myelination in mammals Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1 Diagnosing arthrogryposis multiplex congenita: a review Congenital Zika syndrome with arthrogryposis: retrospective case series study A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle.Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians MYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to Learn Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures Congenital muscular dystrophies: a brief review CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.Interbrachial Pinch by Trapezius Transfer in Amyoplasia Congenita: A Case Report Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1 Skeletal muscle abnormalities and genetic factors related to vertical talus.Arthrogryposis in infancy, multidisciplinary approach: case report.Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.Short-term functional outcome in children with arthrogryposis multiplex congenita after multiple surgeries at an early age.Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth Arthrogryposis multiplex congenita-an update Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation.Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?Use of intraoperative laryngeal electromyography to evaluate stridor in children with arthrogryposis.Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review.Management of hip contractures and dislocations in arthrogryposis.Management of knee deformities in children with arthrogryposis.The evidence for abandoning upper limb stretch interventions in paediatric practice.The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis.Trismus pseudocamptodactyly syndrome: a sporadic cause of trismus The clubfoot painted by Jusepe de Ribera: a controversial diagnosis.Analysis on the results from percutaneous extensor osteotomy of the distal femur in patients with amyoplasia.Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.

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P2860

Arthrogryposis: a review and update

http://www.wikidata.org/entity/Q24644127

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2009 nî lūn-bûn

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2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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Arthrogryposis: a review and update

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Arthrogryposis: a review and update

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Arthrogryposis: a review and update

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Arthrogryposis: a review and update

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Arthrogryposis: a review and update

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Arthrogryposis: a review and update

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Arthrogryposis: a review and update

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Journal of Bone and Joint Surgery

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Arthrogryposis: a review and update

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P2093

Ann E Van Heest

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David Pleasure

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Michael Bamshad

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P2860

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway

Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

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347910

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10.2106/JBJS.I.00281

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Supplement_4

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91 Suppl 4

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2009-07-01T00:00:00Z

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51437236

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19571066

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2698792

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