Nemaline myopathies: a current view

Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy

(2019) Frank Li et al.   HUMAN MOLECULAR GENETICS

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

(2018) Emily C. Oates et al.   ANNALS OF NEUROLOGY

Ryanodine receptor type 3 (RYR3 ) as a novel gene associated with a myopathy with nemaline bodies

(2018) Y. Nilipour et al.   EUROPEAN JOURNAL OF NEUROLOGY

TNNT1 nemaline myopathy: natural history and therapeutic frontier

(2018) Michael D Fox et al.   HUMAN MOLECULAR GENETICS

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

(2018) Sarah A. Sandaradura et al.   HUMAN MUTATION

The Molecular Mechanisms of Mutations in Actin and Myosin that Cause Inherited Myopathy

(2018) Steven Marston   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes

(2018) Reda Zenagui et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3 -related type 1 pontocerebellar hypoplasia

(2018) Miguel M Pinto et al.   MUSCLE & NERVE

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

(2018) Heinz Jungbluth et al.   Nature Reviews Neurology

Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein

(2018) Tamar E. Sztal et al.   PLoS Genetics

Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

(2018) Tamar E. Sztal et al.   Acta Neuropathologica Communications

A nebulin super-repeat panel reveals stronger actin binding towards the ends of the super-repeat region

(2018) Jenni Laitila et al.   MUSCLE & NERVE

L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy

(2018) Adriana M. Messineo et al.   Scientific Reports

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

(2018) Le Thanh Lam et al.   Scientific Reports

Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria

(2018) Ulrich A. Schatz et al.   NEUROLOGY

Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations

(2018) Eva Michael et al.   NEUROMUSCULAR DISORDERS

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

(2018) Kirsi J. Kiiski et al.   NEUROMUSCULAR DISORDERS

Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice

(2017) Jennifer A Tinklenberg et al.   HUMAN MOLECULAR GENETICS

Myo18b is essential for sarcomere assembly in fast skeletal muscle

(2017) Joachim Berger et al.   HUMAN MOLECULAR GENETICS

Cytoplasmic body pathology in severe ACTA1 -related myopathy in the absence of typical nemaline rods

(2017) Sandra Donkervoort et al.   NEUROMUSCULAR DISORDERS

Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy

(2017) Barbara Joureau et al.   NEUROMUSCULAR DISORDERS

Myopathology in congenital myopathies

(2017) C. A. Sewry et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Myopathology in times of modern imaging

(2017) H. Jungbluth   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

(2017) Lukas J. Schnitzler et al.   Orphanet Journal of Rare Diseases

Clinical and Histologic Findings in ACTA1 -Related Nemaline Myopathy: Case Series and Review of the Literature

(2017) Cristiane de Araújo Martins Moreno et al.   PEDIATRIC NEUROLOGY

KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination

(2017) Andres Ramirez-Martinez et al.   eLife

Novel autosomal dominant TNNT1 mutation causing nemaline myopathy

(2017) Chamindra G. Konersman et al.   Molecular Genetics & Genomic Medicine

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

(2016) Anne Guimier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy

(2016) Jennifer Tinklenberg et al.   AMERICAN JOURNAL OF PATHOLOGY

Modulating myosin restores muscle function in a mouse model of nemaline myopathy

(2016) Johan Lindqvist et al.   ANNALS OF NEUROLOGY

Myopathy-inducing mutation H40Y in ACTA1 hampers actin filament structure and function

(2016) Chun Chan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

(2016) Ritika Gurung et al.   GENETICS

Intranuclear protein aggregation in myofibrillar myopathies

(2016) R. Dominguez Rubio et al.   NEUROMUSCULAR DISORDERS

Nemaline myopathies: State of the art

(2016) E. Malfatti et al.   REVUE NEUROLOGIQUE

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

(2016) Ritika Gurung et al.   GENETICS

TPM3deletions cause a hypercontractile congenital muscle stiffness phenotype

(2015) Sandra Donkervoort et al.   ANNALS OF NEUROLOGY

Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy

(2015) L. Tian et al.   Disease Models & Mechanisms

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

(2015) Kirsi Kiiski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy

(2015) Frank Li et al.   HUMAN MOLECULAR GENETICS

Severe myopathy in mice lacking the MEF2/SRF-dependent gene leiomodin-3

(2015) Bercin K. Cenik et al.   JOURNAL OF CLINICAL INVESTIGATION

A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation inMYO18B

(2015) Anas M Alazami et al.   JOURNAL OF MEDICAL GENETICS

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

(2015) Ulla Najwa Abdulhaq et al.   MUSCLE & NERVE

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

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

Review of Cardiac Disease in Nemaline Myopathy

(2015) Josef Finsterer et al.   PEDIATRIC NEUROLOGY

Association of a NovelACTA1Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family

(2015) Kristen Zukosky et al.   JAMA Neurology

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

(2014) Christine B. Gurniak et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

(2014) Gina L O'Grady et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations inTPM2andTPM3Causing Congenital Myopathies

(2014) Minttu Marttila et al.   HUMAN MUTATION

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

(2014) Vilma-Lotta Lehtokari 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

Deficiency of slow skeletal muscle troponin T causes atrophy of type I slow fibres and decreases tolerance to fatigue

(2014) Bin Wei et al.   JOURNAL OF PHYSIOLOGY-LONDON

Congenital myopathies: Natural history of a large pediatric cohort

(2014) I. Colombo et al.   NEUROLOGY

Alterations at the Cross-Bridge Level Are Associated with a Paradoxical Gain of Muscle Function In Vivo in a Mouse Model of Nemaline Myopathy

(2014) Charlotte Gineste et al.   PLoS One

Kelch proteins: emerging roles in skeletal muscle development and diseases

(2014) Vandana A Gupta et al.   Skeletal Muscle

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

(2014) Edoardo Malfatti et al.   Acta Neuropathologica Communications

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

(2013) Gianina Ravenscroft 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

Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy

(2013) Coen A. C. Ottenheijm et al.   BRAIN

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

(2013) Mariacristina Scoto et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients

(2013) Steven Marston et al.   HUMAN MOLECULAR GENETICS

The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse

(2013) D. L. Yamamoto et al.   JOURNAL OF CELL SCIENCE

Distinct Underlying Mechanisms of Limb and Respiratory Muscle Fiber Weaknesses in Nemaline Myopathy

(2013) Johan Lindqvist et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene

(2013) Edoardo Malfatti et al.   NEUROMUSCULAR DISORDERS

In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype

(2013) C. Gineste et al.   NEUROMUSCULAR DISORDERS

Combined MRI and 31P-MRS Investigations of the ACTA1(H40Y) Mouse Model of Nemaline Myopathy Show Impaired Muscle Function and Altered Energy Metabolism

(2013) Charlotte Gineste et al.   PLoS One

Nemaline myopathy caused byTNNT1mutations in a Dutch pedigree

(2013) W. Ludo van der Pol et al.   Molecular Genetics & Genomic Medicine

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

(2012) Kristen J. Nowak et al.   ACTA NEUROPATHOLOGICA

Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance

(2012) P. B. Agrawal et al.   HUMAN MOLECULAR GENETICS

Consensus Statement on Standard of Care for Congenital Myopathies

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

Expression of multiple nebulin isoforms in human skeletal muscle and brain

(2012) Jenni Laitila et al.   MUSCLE & NERVE

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

(2012) R. K. Jain et al.   NEUROLOGY

Nemaline Myopathy-Related Skeletal Muscle α-Actin (ACTA1) Mutation, Asp286Gly, Prevents Proper Strong Myosin Binding and Triggers Muscle Weakness

(2012) Julien Ochala et al.   PLoS One

The Sarcomeric Protein Nebulin: Another Multifunctional Giant in Charge of Muscle Strength Optimization

(2012) Coen A. C. Ottenheijm et al.   Frontiers in Physiology

The Calcium Sensitizer Levosimendan Improves Human Diaphragm Function

(2011) Jonne Doorduin et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

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

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

(2011) Sun-Young Kim et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

Congenital Fiber-Type Disproportion

(2011) Nigel F. Clarke   Seminars in Pediatric Neurology

Nemaline Myopathies

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

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

de novo RYR1 heterozygous mutation (I4898T) causing lethal core–rod myopathy in twins

(2010) Aurelio Hernandez-Lain et al.   European Journal of Medical Genetics

In Vitro Analysis of Rod Composition and Actin Dynamics in Inherited Myopathies

(2010) Aurélie Vandebrouck et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Deletion of a Genomic Segment Containing the Cardiac Troponin I Gene Knocks Down Expression of the Slow Troponin T Gene and Impairs Fatigue Tolerance of Diaphragm Muscle

(2009) Han-Zhong Feng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2009) Kristen J. Nowak et al.   JOURNAL OF CELL BIOLOGY

The vertebrate muscle Z-disc: sarcomere anchor for structure and signalling

(2009) Pradeep K. Luther   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

CORE-ROD MYOPATHY CAUSED BY MUTATIONS IN THE NEBULIN GENE

(2009) N. B. Romero et al.   NEUROLOGY

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

(2009) Vilma-Lotta Lehtokari et al.   NEUROMUSCULAR DISORDERS

Ca2+ sensitizers: An emerging class of agents for counterbalancing weakness in skeletal muscle diseases?

(2009) Julien Ochala   NEUROMUSCULAR DISORDERS

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

Genotype–phenotype correlations in ACTA1 mutations that cause congenital myopathies

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