Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
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Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndromeExome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys)GeneSeeker: extraction and integration of human disease-related information from web-based genetic databasesCarney complex: an updateAbnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null MiceDe novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.Haploinsufficiency at the protein kinase A RI alpha gene locus leads to fertility defects in male mice and menMutations in ECEL1 cause distal arthrogryposis type 5DFunctional studies of individual myosin molecules.Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complexFunctional diversity among a family of human skeletal muscle myosin motors.Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot.Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells.Carney complex (CNC).The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscleMotor protein diseases of the nervous system.Inherited disposition to cardiac myxoma development.Novel Mutation in PRKAR1A in Carney Complex.Update on clubfoot: etiology and treatment.Thick and thin filament gene mutations in striated muscle diseases.Molecular basis of cardiac myxomas.Carney complex presenting with a unilateral adrenocortical nodule: a case report.Myosinopathies: pathology and mechanisms.The mysterious pathways of cardiac myxomas: a review of histogenesis, pathogenesis and pathology.Hepatitis B virus and Homo sapiens proteome-wide analysis: A profusion of viral peptide overlaps in neuron-specific human proteins.Developmental myosins: expression patterns and functional significance.Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.
P2860
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P2860
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
description
2004 nî lūn-bûn
@nan
2004 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
@ast
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
@en
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
@nl
type
label
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
@ast
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
@en
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
@nl
prefLabel
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
@ast
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
@en
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
@nl
P2093
P356
P1476
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
@en
P2093
Alan Zunamon
Anne Destree
C Charlton Mabry
Craig T Basson
Cynthia C Morton
Deborah A McDermott
Jean-François Lefaivre
Jean-Marie Chaudron
Mark Veugelers
Michael Bressan
P304
P356
10.1056/NEJMOA040584
P407
P577
2004-07-01T00:00:00Z