Congenital myopathies: an update (Q26824526)

James J. Dowling

series ordinal

2

1 reference

Elizabeth M. Gibbs

series ordinal

3

1 reference

Carsten G. Bönnemann

series ordinal

4

1 reference

language of work or name

1 reference

April 2012

1 reference

Current Neurology and Neuroscience Reports

published in

1 reference

volume

12

1 reference

issue

2

1 reference

page(s)

165-74

1 reference

Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Tropomyosin inhibits ADF/cofilin-dependent actin filament dynamics

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Nemaline myopathy: a clinical study of 143 cases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Functional partnership between amphiphysin and dynamin in clathrin-mediated endocytosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Mutations in dynamin 2 cause dominant centronuclear myopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Pairing phosphoinositides with calcium ions in endolysosomal dynamics: phosphoinositides control the direction and specificity of membrane trafficking by regulating the activity of calcium channels in the endolysosomes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Nemaline myopathy type 6: clinical and myopathological features

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Centronuclear myopathies: a widening concept

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Dynamin 2 and human diseases.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Characterization and temporal development of cores in a mouse model of malignant hyperthermia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Nebulin alters cross-bridge cycling kinetics and increases thin filament activation: a novel mechanism for increasing tension and reducing tension cost

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Context-dependent functional substitution of alpha-skeletal actin by gamma-cytoplasmic actin.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Centronuclear (myotubular) myopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Dietary L-tyrosine supplementation in nemaline myopathy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Central core disease is due to RYR1 mutations in more than 90% of patients.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Nemaline myopathy with intranuclear rods--intranuclear rod myopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Central core disease of muscle: clinical, histochemical and electron microscopic studies of an affected mother and child

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Nebulin as an actin zipper. A two-module nebulin fragment promotes actin nucleation and stabilizes actin filaments.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Distal myopathy caused by homozygous missense mutations in the nebulin gene

31 May 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

Central core disease-an investigation of a rare muscle cell abnormality.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

The spectrum of pathology in central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

X-inactivation patterns in carriers of X-linked myotubular myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

Zebrafish relatively relaxed mutants have a ryanodine receptor defect, show slow swimming and provide a model of multi-minicore disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

Magnetic resonance imaging of muscle in nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

Core-rod myopathy caused by mutations in the nebulin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-012-0255-X

182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Orthopaedic aspects of central core disease.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4491488

Prevalence of congenital myopathies in a representative pediatric united states population

28 November 2018

1 reference

12 December 2020

The Fine Structure of the Rod-Like Bodies in Nemaline Myopathy and their Relation to the Z-Discs

1 reference

12 December 2020

164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16–18th January 2009, Naarden, The Netherlands

1 reference

12 December 2020

Oxidative enzymes and phosphorylase in central-core disease of muscle

1 reference

12 December 2020

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation

1 reference

12 December 2020

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

1 reference

12 December 2020

Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms

1 reference

12 December 2020

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

1 reference

12 December 2020

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins

1 reference

12 December 2020

Skeletal muscle of mice with a mutation in slow alpha-tropomyosin is weaker at lower lengths

1 reference

12 December 2020

1 reference

12 December 2020

The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy

1 reference

12 December 2020

Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations

1 reference

12 December 2020

Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies

1 reference

12 December 2020

10.1007/S11910-012-0255-X

Identifiers

DOI

1 reference

Dimensions Publication ID

1014906628

0 references

1 reference

1 reference

PubMed publication ID

22392505

1 reference