(Q30343979)

20 June 2017

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title

Congenital myopathies: diseases of the actin cytoskeleton. (English)

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20 June 2017

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3

Laura M Machesky

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20 June 2017

Emilie Clarkson

1

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PubMed ID

15495263

20 June 2017

Celine F Costa

series ordinal

2

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20 June 2017

1 November 2004

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20 June 2017

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20 June 2017

204

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20 June 2017

407-417

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20 June 2017

4

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Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

20 June 2017

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Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments

21 January 2018

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21 January 2018

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Protein surplus myopathies and other rare congenital myopathies

21 January 2018

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A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions

21 January 2018

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An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

21 January 2018

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Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

21 January 2018

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MTM1 mutations in X-linked myotubular myopathy

21 January 2018

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Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

21 January 2018

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Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease

21 January 2018

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Structural mechanism of muscle contraction.

21 January 2018

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The structural basis of muscle contraction

21 January 2018

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Defining actin filament length in striated muscle: rulers and caps or dynamic stability?

21 January 2018

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Actin binding proteins: regulation of cytoskeletal microfilaments

21 January 2018

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Atomic structure of the actin:DNase I complex

21 January 2018

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Actin dynamics at pointed ends regulates thin filament length in striated muscle

21 January 2018

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Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs

21 January 2018

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Clinical course correlates poorly with muscle pathology in nemaline myopathy.

21 January 2018

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Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy

21 January 2018

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Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

21 January 2018

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Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

21 January 2018

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Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.

21 January 2018

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Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

21 January 2018

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Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period

21 January 2018

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Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.

21 January 2018

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Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

21 January 2018

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Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression.

21 January 2018

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Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle

21 January 2018

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Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy

21 January 2018

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Production of human skeletal alpha-actin proteins by the baculovirus expression system

21 January 2018

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Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies

21 January 2018

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Functional properties of non-muscle tropomyosin isoforms

21 January 2018

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Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

21 January 2018

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Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

21 January 2018

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Erratum: Corrigendum: A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1

21 January 2018

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Expression and biological activity of Baculovirus generated wild-type human slow alpha tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathy

21 January 2018

1 reference

A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy

21 January 2018

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A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production

21 January 2018

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Modulation of thin filament activation by breakdown or isoform switching of thin filament proteins: physiological and pathological implications

21 January 2018

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Troponin T: genetics, properties and function

21 January 2018

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Troponin I: inhibitor or facilitator

21 January 2018

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A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

21 January 2018

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A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

21 January 2018

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109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands.

21 January 2018

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Myostatin: a therapeutic target for skeletal muscle wasting

21 January 2018

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Therapeutics for Duchenne muscular dystrophy: current approaches and future directions.

21 January 2018

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Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle

21 January 2018

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Molecular profiles of inflammatory myopathies.

21 January 2018

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Functional and ultrastructural effects of a missense mutation in the indirect flight muscle-specific actin gene of Drosophila melanogaster.

21 January 2018

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Isolation of 88F actin mutants of Drosophila melanogaster and possible alterations in the mutant actin structures

21 January 2018

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Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

21 January 2018

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Nebulin mutations in autosomal recessive nemaline myopathy: an update

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/PATH.1648

1 reference

20 June 2017

1 reference

PubMed ID

15495263