Congenital Myopathies: An Update

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

(2011) Belinda S. Cowling et al.   AMERICAN JOURNAL OF PATHOLOGY

Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice

(2011) Michael W. Lawlor et al.   AMERICAN JOURNAL OF PATHOLOGY

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

Pairing phosphoinositides with calcium ions in endolysosomal dynamics

(2011) Dongbiao Shen et al.   BIOESSAYS

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

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

(2011) F. Hanisch et al.   JOURNAL OF NEUROLOGY

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

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

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

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

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

(2010) Jon A Kenniston et al.   EMBO JOURNAL

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

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

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

(2010) Anne-Cécile Durieux 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

Dynamin 2 Mutants Linked to Centronuclear Myopathies Form Abnormally Stable Polymers

(2010) Lei Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dynamin 2 and human diseases

(2010) Anne-Cécile Durieux et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Nemaline myopathy type 6: Clinical and myopathological features

(2010) Montse Olivé et al.   MUSCLE & NERVE

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

(2010) Rachel D. Susman et al.   NEUROMUSCULAR DISORDERS

Centronuclear myopathies: A widening concept

(2010) Norma Beatriz Romero   NEUROMUSCULAR DISORDERS

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

(2010) Gianina Ravenscroft et al.   NEUROMUSCULAR DISORDERS

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

(2010) J. A. Bevilacqua et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Selenoproteins and Protection against Oxidative Stress: Selenoprotein N as a Novel Player at the Crossroads of Redox Signaling and Calcium Homeostasis

(2009) Sandrine Arbogast et al.   ANTIOXIDANTS & REDOX SIGNALING

Context-dependent functional substitution of α-skeletal actin by γ-cytoplasmic actin

(2009) Michele A. Jaeger et al.   FASEB JOURNAL

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

(2009) C. A.C. Ottenheijm et al.   HUMAN MOLECULAR GENETICS

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

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

Nebulin Alters Cross-bridge Cycling Kinetics and Increases Thin Filament Activation

(2009) Murali Chandra 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

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

(2009) Coen A.C. Ottenheijm et al.   JOURNAL OF STRUCTURAL BIOLOGY

A NEW CENTRONUCLEAR MYOPATHY PHENOTYPE DUE TO A NOVEL DYNAMIN 2 MUTATION

(2009) M. Bitoun et al.   NEUROLOGY

CORE-ROD MYOPATHY CAUSED BY MUTATIONS IN THE NEBULIN GENE

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

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

(2009) Nigel G. Laing et al.   NEUROMUSCULAR DISORDERS

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

(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

Ca2+ dysregulation in Ryr1I4895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods

(2009) E. Zvaritch et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2009) L. Al-Qusairi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2009) S. Boncompagni et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

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

(2008) Ulrike Schara et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

(2008) Anna Buj-Bello et al.   HUMAN MOLECULAR GENETICS

Genotype–phenotype correlations in ACTA1 mutations that cause congenital myopathies

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

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