Myopathology in congenital myopathies (Q39038887)

8 September 2017

title

Myopathology in congenital myopathies (English)

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8 September 2017

C A Sewry

1

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8 September 2017

C Wallgren-Pettersson

series ordinal

2

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8 September 2017

publication date

15 December 2016

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Neuropathology and Applied Neurobiology

8 September 2017

published in

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8 September 2017

volume

43

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8 September 2017

issue

1

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8 September 2017

page(s)

5-23

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Approach to the diagnosis of congenital myopathies

8 September 2017

cites work

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Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

21 January 2018

1 reference

Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature

21 January 2018

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21 January 2018

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Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation.

21 January 2018

1 reference

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy

21 January 2018

1 reference

Review of Cardiac Disease in Nemaline Myopathy

21 January 2018

1 reference

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

21 January 2018

1 reference

Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.

21 January 2018

1 reference

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies

21 January 2018

1 reference

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies

21 January 2018

1 reference

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

21 January 2018

1 reference

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

21 January 2018

1 reference

A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array

21 January 2018

1 reference

Congenital fiber-type disproportion

21 January 2018

1 reference

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

1 reference

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)

21 January 2018

1 reference

Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.

21 January 2018

1 reference

A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy.

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutation update: the spectra of nebulin variants and associated myopathies

21 January 2018

1 reference

Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene

21 January 2018

1 reference

The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

21 January 2018

1 reference

Nemaline myopathy caused by absence of alpha-skeletal muscle actin

21 January 2018

1 reference

Sporadic late onset nemaline myopathy

21 January 2018

1 reference

21 January 2018

1 reference

Distal myopathy caused by homozygous missense mutations in the nebulin gene

21 January 2018

1 reference

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

21 January 2018

1 reference

Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree

21 January 2018

1 reference

Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)

21 January 2018

1 reference

Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2

21 January 2018

1 reference

TPM3 mutation in one of the original cases of cap disease

21 January 2018

1 reference

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family

21 January 2018

1 reference

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

21 January 2018

1 reference

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

21 January 2018

1 reference

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred

21 January 2018

1 reference

Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H).

21 January 2018

1 reference

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

21 January 2018

1 reference

Severe protein aggregate myopathy in a knockout mouse model points to an essential role of cofilin2 in sarcomeric actin exchange and muscle maintenance

21 January 2018

1 reference

Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy

21 January 2018

1 reference

Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1).

21 January 2018

1 reference

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

21 January 2018

1 reference

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

21 January 2018

1 reference

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

21 January 2018

1 reference

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

21 January 2018

1 reference

21 January 2018

1 reference

Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.

21 January 2018

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Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

21 January 2018

1 reference

Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy

21 January 2018

1 reference

Myopathic causes of exercise intolerance with rhabdomyolysis

21 January 2018

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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.

21 January 2018

1 reference

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

21 January 2018

1 reference

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

21 January 2018

1 reference

The spectrum of pathology in central core disease

21 January 2018

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Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

21 January 2018

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

21 January 2018

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Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

21 January 2018

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RYR1 mutations are a common cause of congenital myopathies with central nuclei

21 January 2018

1 reference

Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation

21 January 2018

1 reference

Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis

21 January 2018

1 reference

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

21 January 2018

1 reference

Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology

21 January 2018

1 reference

Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy

21 January 2018

1 reference

T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases

21 January 2018

1 reference

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

21 January 2018

1 reference

Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy.

21 January 2018

1 reference

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

21 January 2018

1 reference

Centronuclear myopathies: a widening concept

21 January 2018

1 reference

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation

21 January 2018

1 reference

Mutations in dynamin 2 cause dominant centronuclear myopathy

21 January 2018

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Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

21 January 2018

1 reference

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

21 January 2018

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Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

21 January 2018

1 reference

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

21 January 2018

1 reference

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

21 January 2018

1 reference

The Genetic Basis for Cardiomyopathy

21 January 2018

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Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

21 January 2018

1 reference

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy

21 January 2018

1 reference

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

21 January 2018

1 reference

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

Myosinopathies: pathology and mechanisms

21 January 2018

1 reference

A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.

21 January 2018

1 reference

169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands

21 January 2018

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A mutation in myotilin causes spheroid body myopathy

21 January 2018

1 reference

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels

21 January 2018

1 reference

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates

21 January 2018

1 reference

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

21 January 2018

1 reference

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

21 January 2018

1 reference

Distinct contractile protein profile in congenital myotonic dystrophy and X-linked myotubular myopathy

21 January 2018

1 reference

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

21 January 2018

1 reference

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

21 January 2018

1 reference

Core-rod myopathy caused by mutations in the nebulin gene

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/NAN.12369

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8 September 2017

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