Bi-allelic mutations in MYL1 cause a severe congenital myopathy (Q63681671)

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22 April 2020

title

Bi-allelic mutations in MYL1 cause a severe congenital myopathy (English)

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22 April 2020

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GOA release 2020-03-11

structural constituent of muscle

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GOA release 2020-03-11

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Francesco Muntoni

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22 April 2020

Gianina Ravenscroft

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Carlo A Bortolotti

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Matteo Lambrughi

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22 April 2020

Marco Borsari

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Caroline A Sewry

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Rahul Phadke

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Goknur Haliloglu

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Royston Ong

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Hayley Goullée

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Tamieka Whyte

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Irina T Zaharieva

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Uk K Consortium

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22 April 2020

Adnan Manzur

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22 April 2020

Beril Talim

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22 April 2020

Ulkuhan Kaya

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Daniel P S Osborn

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publication date

1 December 2018

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22 April 2020

published in

Human Molecular Genetics

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volume

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issue

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page(s)

4263-4272

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describes a project that uses

22 April 2020

ImageJ

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11 June 2022

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inferred from PubMed Central ID database lookup

cites work

Identification of the functional promoter regions in the human gene encoding the myosin alkali light chains MLC1 and MLC3 of fast skeletal muscle

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12 December 2020

The histographic analysis of human muscle biopsies with regard to fiber types: I. Adult male and female

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12 December 2020

Antisense suppression of skeletal muscle myosin light chain-1 biosynthesis impairs myofibrillogenesis in cultured myotubes

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12 December 2020

The essential light chain is required for full force production by skeletal muscle myosin

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12 December 2020

Comparative protein modelling by satisfaction of spatial restraints

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12 December 2020

Skeletal muscle myosin light chains are essential for physiological speeds of shortening.

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12 December 2020

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

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12 December 2020

Modulation of contractility in human cardiac hypertrophy by myosin essential light chain isoforms

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12 December 2020

Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene

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12 December 2020

Overexpression of gamma-sarcoglycan induces severe muscular dystrophy. Implications for the regulation of Sarcoglycan assembly

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12 December 2020

Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology

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12 December 2020

Two distinct myosin light chain structures are induced by specific variations within the bound IQ motifs-functional implications

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12 December 2020

VADAR: a web server for quantitative evaluation of protein structure quality

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12 December 2020

SEPN1: associated with congenital fiber-type disproportion and insulin resistance

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12 December 2020

Statistical potential for assessment and prediction of protein structures

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12 December 2020

Myosin essential light chain in health and disease

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12 December 2020

The pathogenesis of ACTA1-related congenital fiber type disproportion

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12 December 2020

PDB2PQR: expanding and upgrading automated preparation of biomolecular structures for molecular simulations

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12 December 2020

Integration of embryonic and fetal skeletal myogenic programs at the myosin light chain 1f/3f locus

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12 December 2020

Mutations in TPM3 are a common cause of congenital fiber type disproportion

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12 December 2020

Dysferlin overexpression in skeletal muscle produces a progressive myopathy.

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12 December 2020

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

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12 December 2020

Electron Tomography of Cryofixed, Isometrically Contracting Insect Flight Muscle Reveals Novel Actin-Myosin Interactions

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12 December 2020

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

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12 December 2020

In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament

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12 December 2020

Alkali-like myosin light chain-1 (myl1) is an early marker for differentiating fast muscle cells in zebrafish

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12 December 2020

Fetal akinesia: review of the genetics of the neuromuscular causes

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12 December 2020

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

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12 December 2020

Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.

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12 December 2020

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

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12 December 2020

A promoter-level mammalian expression atlas

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12 December 2020

Integrative data mining highlights candidate genes for monogenic myopathies

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12 December 2020

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

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12 December 2020

Expanding the phenotype of GMPPB mutations.

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12 December 2020

Large-scale whole-genome sequencing of the Icelandic population

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12 December 2020

Human genomics. The human transcriptome across tissues and individuals

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12 December 2020

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

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12 December 2020

Myosin content of individual human muscle fibers isolated by laser capture microdissection

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12 December 2020

A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.

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12 December 2020

New era in genetics of early-onset muscle disease: Breakthroughs and challenges

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12 December 2020

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

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12 December 2020

Identifiers

DOI

10.1093/HMG/DDY320

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22 April 2020

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PubMed publication ID

30215711

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