Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

Congenital myopathy associated with the triadin knockout syndrome

(2017) Andrew G. Engel et al.   NEUROLOGY

219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016

(2017) Peter Hackman et al.   NEUROMUSCULAR DISORDERS

Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy

(2017) R. Tsabari et al.   NEUROMUSCULAR DISORDERS

Myopathology in times of modern imaging

(2017) H. Jungbluth   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Current and future therapeutic approaches to the congenital myopathies

(2017) Heinz Jungbluth et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

A chemical chaperone improves muscle function in mice with a RyR1 mutation

(2017) Chang Seok Lee et al.   Nature Communications

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

(2016) Vanessa Schartner et al.   ACTA NEUROPATHOLOGICA

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

(2016) Gina L. O’Grady et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation-specific effects on thin filament length in thin filament myopathy

(2016) Josine M. de Winter et al.   ANNALS OF NEUROLOGY

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

(2016) Susan Byrne et al.   BRAIN

Congenital myopathies

(2016) Heinz Jungbluth et al.   CURRENT OPINION IN NEUROLOGY

A Zebrafish Model for a Human Myopathy Associated with Mutation of the Unconventional Myosin MYO18B

(2016) Ritika Gurung et al.   GENETICS

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG

(2016) Patricia Yuste-Checa et al.   HUMAN MUTATION

The rise of proteostasis promoters

(2016) Hector Vega et al.   IUBMB LIFE

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models

(2016) Nesrin Sabha et al.   JOURNAL OF CLINICAL INVESTIGATION

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

(2016) Yavuz Bayram et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2016) Tracey Willis et al.   JOURNAL OF NEUROLOGY

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

(2016) D. Natera-de Benito et al.   JOURNAL OF NEUROLOGY

Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novelMegf10mutations

(2016) Teerin Liewluck et al.   MUSCLE & NERVE

217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016

(2016) Heinz Jungbluth et al.   NEUROMUSCULAR DISORDERS

Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype–genotype correlation

(2016) Kazuko Takayama et al.   NEUROMUSCULAR DISORDERS

Three residues in the luminal domain of triadin impact on Trisk 95 activation of skeletal muscle ryanodine receptors

(2016) E. Wium et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Stac3 has a direct role in skeletal muscle-type excitation–contraction coupling that is disrupted by a myopathy-causing mutation

(2016) Alexander Polster et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities

(2016) R. J. Lopez et al.   Science Signaling

A Zebrafish Model for a Human Myopathy Associated with Mutation of the Unconventional Myosin MYO18B

(2016) Ritika Gurung et al.   GENETICS

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities

(2016) R. J. Lopez et al.   Science Signaling

Malignant Hyperthermia Testing in Probands without Adverse Anesthetic Reaction

(2015) Matthew A. Timmins et al.   ANESTHESIOLOGY

TPM3deletions cause a hypercontractile congenital muscle stiffness phenotype

(2015) Sandra Donkervoort et al.   ANNALS OF NEUROLOGY

Diseases caused by mutations inORAI1andSTIM1

(2015) Rodrigo S. Lacruz et al.   Annals of the New York Academy of Sciences

Loss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy

(2015) Irina T. Zaharieva et al.   BRAIN

Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome

(2015) H. M. Altmann et al.   CIRCULATION

Phenylbutyric Acid: Simple Structure - Multiple Effects

(2015) Magdalena Kusaczuk et al.   CURRENT PHARMACEUTICAL DESIGN

RYR1-related myopathies: a wide spectrum of phenotypes throughout life

(2015) M. Snoeck et al.   EUROPEAN JOURNAL OF NEUROLOGY

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

(2015) Montse Olivé et al.   HUMAN MOLECULAR GENETICS

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

(2015) Ori Rokach et al.   HUMAN MOLECULAR GENETICS

Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations

(2015) Nanna Witting et al.   MUSCLE & NERVE

Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy

(2015) N. Kraeva et al.   NEUROMUSCULAR DISORDERS

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

(2015) C.A. Sewry et al.   NEUROMUSCULAR DISORDERS

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

(2015) Emily J. Todd et al.   Orphanet Journal of Rare Diseases

Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene

(2015) Josine M de Winter et al.   Skeletal Muscle

SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

(2014) Pankaj B. Agrawal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

(2014) Johann Böhm et al.   BRAIN

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

(2014) Phillipa J. Lamont et al.   HUMAN MUTATION

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

(2014) Ankit Garg et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2014) Michaela Yuen et al.   JOURNAL OF CLINICAL INVESTIGATION

Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle

(2014) Lilli Winter et al.   JOURNAL OF CLINICAL INVESTIGATION

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

(2014) Belinda S. Cowling et al.   JOURNAL OF CLINICAL INVESTIGATION

Architecture and conformational switch mechanism of the ryanodine receptor

(2014) Rouslan G. Efremov et al.   NATURE

Diagnostic approach to the congenital muscular dystrophies

(2014) Carsten G. Bönnemann et al.   NEUROMUSCULAR DISORDERS

Mutations in SCN4A: A Rare but Treatable Cause of Recurrent Life-Threatening Laryngospasm

(2014) R. R. Singh et al.   PEDIATRICS

Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy

(2014) M. K. Childers et al.   Science Translational Medicine

Pathogenic Mechanisms in Centronuclear Myopathies

(2014) Heinz Jungbluth et al.   Frontiers in Aging Neuroscience

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations

(2014) Minttu Marttila et al.   Skeletal Muscle

Kelch proteins: emerging roles in skeletal muscle development and diseases

(2014) Vandana A Gupta et al.   Skeletal Muscle

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

(2013) Gianina Ravenscroft et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

(2013) Johann Böhm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) Vandana A. Gupta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies

(2013) Ann E. Davidson et al.   BRAIN

Expanding the phenotypic spectrum ofECEL1-related congenital contracture syndromes

(2013) S. Shaaban et al.   CLINICAL GENETICS

Phenylbutyrate is a Multifaceted Drug that Exerts Neuroprotective Effects and Reverses the Alzheimer´s Disease-like Phenotype of a Commonly Used Mouse Model

(2013) Mar Cuadrado-Tejedor et al.   CURRENT PHARMACEUTICAL DESIGN

Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways

(2013) Lama Al-Qusairi et al.   FASEB JOURNAL

Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy

(2013) John Rendu et al.   HUMAN GENE THERAPY

Cardiac  -actin over-expression therapy in dominant ACTA1 disease

(2013) G. Ravenscroft et al.   HUMAN MOLECULAR GENETICS

Congenital myopathy is caused by mutation of HACD1

(2013) Emad Muhammad et al.   HUMAN MOLECULAR GENETICS

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

(2013) C. Chauveau et al.   HUMAN MOLECULAR GENETICS

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy

(2013) Michael W. Lawlor et al.   HUMAN MOLECULAR GENETICS

RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling

(2013) Haiyan Zhou et al.   HUMAN MUTATION

Calcium cycling proteins and heart failure: mechanisms and therapeutics

(2013) Andrew R. Marks   JOURNAL OF CLINICAL INVESTIGATION

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

(2013) Josine Marieke de Winter et al.   JOURNAL OF MEDICAL GENETICS

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy

(2013) Elizabeth M. Gibbs et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

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

(2013) Sissel Løseth et al.   JOURNAL OF NEUROLOGY

Structural basis for Ca2+ selectivity of a voltage-gated calcium channel

(2013) Lin Tang et al.   NATURE

Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum

(2013) D. X. Bharucha-Goebel et al.   NEUROLOGY

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

(2013) O. Ceyhan-Birsoy et al.   NEUROLOGY

198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May – 2nd June 2013, Naarden, The Netherlands

(2013) Heinz Jungbluth et al.   NEUROMUSCULAR DISORDERS

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

(2013) N. Dlamini et al.   NEUROMUSCULAR DISORDERS

Approach to the diagnosis of congenital myopathies

(2013) Kathryn N. North et al.   NEUROMUSCULAR DISORDERS

Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility

(2013) B. R. Nelson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

(2013) B. Coste et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy

(2013) Eric J. Horstick et al.   Nature Communications

Myosinopathies: pathology and mechanisms

(2012) Homa Tajsharghi et al.   ACTA NEUROPATHOLOGICA

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores

(2012) Karen Majczenko et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

(2012) Margaret J. McMillin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase

(2012) Nyamkhishig Sambuughin et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy

(2012) James J. Dowling et al.   BRAIN

Interference with Myostatin/ActRIIB Signaling as a Therapeutic Strategy for Duchenne Muscular Dystrophy

(2012) Helge Amthor et al.   CURRENT GENE THERAPY

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models

(2012) J. J. Dowling et al.   Disease Models & Mechanisms

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

(2012) Klaus Dieterich et al.   HUMAN MOLECULAR GENETICS

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

(2012) Andrea Klein et al.   HUMAN MUTATION

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

(2012) Johann Böhm et al.   HUMAN MUTATION

Orai1 deficiency leads to heart failure and skeletal myopathy in zebrafish

(2012) M. Volkers et al.   JOURNAL OF CELL SCIENCE

Consensus Statement on Standard of Care for Congenital Myopathies

(2012) Ching H. Wang et al.   JOURNAL OF CHILD NEUROLOGY

Defective Autophagy and mTORC1 Signaling in Myotubularin Null Mice

(2012) K. M. Fetalvero et al.   MOLECULAR AND CELLULAR BIOLOGY

AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation

(2012) Johanna T Lanner et al.   NATURE MEDICINE

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

(2012) Steven E. Boyden et al.   NEUROGENETICS

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

(2012) R. K. Jain et al.   NEUROLOGY

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

(2012) Heinz Jungbluth et al.   NEUROMUSCULAR DISORDERS

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

(2012) T. Cullup et al.   NEUROMUSCULAR DISORDERS

Centronuclear Myopathy in Labrador Retrievers: A Recent Founder Mutation in the PTPLA Gene Has Rapidly Disseminated Worldwide

(2012) Marie Maurer et al.   PLoS One

A Centronuclear Myopathy - Dynamin 2 Mutation Impairs Autophagy in Mice

(2012) Anne-Cécile Durieux et al.   TRAFFIC

The uncertain road towards genomic medicine

(2012) Daniel G. MacArthur et al.   TRENDS IN GENETICS

Mapping domains and mutations on the skeletal muscle ryanodine receptor channel

(2012) Jean H. Hwang et al.   TRENDS IN MOLECULAR MEDICINE

Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models

(2012) Belinda S. Cowling et al.   PLoS Genetics

Prevalence of congenital myopathies in a representative pediatric united states population

(2011) Kimberly Amburgey et al.   ANNALS OF NEUROLOGY

Muscle Magnetic Resonance Imaging in Congenital Myopathies Due to Ryanodine Receptor Type 1 Gene Mutations

(2011) Andrea Klein   ARCHIVES OF NEUROLOGY

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

(2011) Mai-Anh T. Nguyen et al.   BRAIN

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

(2011) Gianina Ravenscroft et al.   BRAIN

Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy

(2011) Julien Ochala et al.   FASEB JOURNAL

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

(2011) Clare V Logan et al.   NATURE GENETICS

SEPN1-related myopathies: Clinical course in a large cohort of patients

(2011) M. Scoto et al.   NEUROLOGY

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

(2011) Stephanie A. Robb et al.   NEUROMUSCULAR DISORDERS

Myofibrillar myopathies

(2011) Duygu Selcen   NEUROMUSCULAR DISORDERS

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

(2011) James J. Dowling et al.   NEUROMUSCULAR DISORDERS

Actin Nemaline Myopathy Mouse Reproduces Disease, Suggests Other Actin Disease Phenotypes and Provides Cautionary Note on Muscle Transgene Expression

(2011) Gianina Ravenscroft et al.   PLoS One

Core Myopathies

(2011) Heinz Jungbluth et al.   Seminars in Pediatric Neurology

Nemaline Myopathies

(2011) Carina Wallgren-Pettersson et al.   Seminars in Pediatric Neurology

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

(2010) Anne Toussaint et al.   ACTA NEUROPATHOLOGICA

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

(2010) Nyamkhishig Sambuughin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

(2010) Verity McClelland et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2010) J.M. Wilmshurst et al.   ANNALS OF NEUROLOGY

Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum

(2010) David H. MacLennan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

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

(2010) Homa Tajsharghi et al.   BRAIN

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency

(2010) Perrine Castets et al.   HUMAN MOLECULAR GENETICS

Zebrafish MTMR14 is required for excitation–contraction coupling, developmental motor function and the regulation of autophagy

(2010) J.J. Dowling et al.   HUMAN MOLECULAR GENETICS

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

(2010) Nigel F. Clarke et al.   HUMAN MUTATION

Interactions with M-band Titin and Calpain 3 Link Myospryn (CMYA5) to Tibial and Limb-girdle Muscular Dystrophies

(2010) Jaakko Sarparanta et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Calsequestrin, triadin and more: the molecules that modulate calcium release in cardiac and skeletal muscle

(2010) Eduardo Ríos et al.   JOURNAL OF PHYSIOLOGY-LONDON

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia

(2010) P. Munot et al.   NEUROMUSCULAR DISORDERS

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

(2010) Teerin Liewluck et al.   NEUROMUSCULAR DISORDERS

Centronuclear myopathies: A widening concept

(2010) Norma Beatriz Romero   NEUROMUSCULAR DISORDERS

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

(2010) A. H. Beggs et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Oxidative stress inSEPN1-related myopathy: From pathophysiology to treatment

(2009) Sandrine Arbogast et al.   ANNALS OF NEUROLOGY

Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors

(2009) Perrine Castets et al.   BMC DEVELOPMENTAL BIOLOGY

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

(2009) Nigel G. Laing et al.   HUMAN MUTATION

Minor sarcoplasmic reticulum membrane components that modulate excitation-contraction coupling in striated muscles

(2009) Susan Treves et al.   JOURNAL OF PHYSIOLOGY-LONDON

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

(2009) Heinz Jungbluth et al.   NEUROMUSCULAR DISORDERS

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

(2009) Nicole Monnier et al.   NEUROMUSCULAR DISORDERS

Cap disease due to mutation of the beta-tropomyosin gene (TPM2)

(2009) Nigel F. Clarke et al.   NEUROMUSCULAR DISORDERS

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

(2009) Heinz Jungbluth et al.   NEUROMUSCULAR DISORDERS

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

(2008) Jorge A. Bevilacqua et al.   ACTA NEUROPATHOLOGICA

Mutations inTPM3are a common cause of congenital fiber type disproportion

(2008) Nigel F. Clarke et al.   ANNALS OF NEUROLOGY

RyR1 S-Nitrosylation Underlies Environmental Heat Stroke and Sudden Death in Y522S RyR1 Knockin Mice

(2008) William J. Durham et al.   CELL

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm

(2008) S TREVES et al.   CURRENT OPINION IN PHARMACOLOGY

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

(2008) Vilma-Lotta Lehtokari et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Deficiency ofMyo18Bin mice results in embryonic lethality with cardiac myofibrillar aberrations

(2008) Rieko Ajima et al.   GENES TO CELLS

STIM1 signalling controls store-operated calcium entry required for development and contractile function in skeletal muscle

(2008) Jonathan Stiber et al.   NATURE CELL BIOLOGY

Genotype–phenotype correlations in ACTA1 mutations that cause congenital myopathies

(2008) Juan-Juan Feng et al.   NEUROMUSCULAR DISORDERS

Centronuclear (myotubular) myopathy

(2008) Heinz Jungbluth et al.   Orphanet Journal of Rare Diseases

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

(2008) M. J. Jurynec et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA