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

Clinical utility gene card for: Nemaline myopathy – update 2015

(2015) Kristen J Nowak 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

Muscle weakness inTPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

(2015) Michaela Yuen et al.   HUMAN MOLECULAR GENETICS

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

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

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

Congenital myopathies: Natural history of a large pediatric cohort

(2014) I. Colombo et al.   NEUROLOGY

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

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

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

(2013) Nancy Mokbel 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

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

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

Stretch-activated signaling is modulated by stretch magnitude and contraction

(2013) Jonathan M. Van Dyke et al.   MUSCLE & NERVE

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

Multimodal MRI and 31P-MRS Investigations of the ACTA1(Asp286Gly) Mouse Model of Nemaline Myopathy Provide Evidence of Impaired In Vivo Muscle Function, Altered Muscle Structure and Disturbed Energy Metabolism

(2013) Charlotte Gineste et al.   PLoS One

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

Sarcomere lengths in human extensor carpi radialis brevis measured by microendoscopy

(2012) Melinda J. Cromie et al.   MUSCLE & NERVE

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

(2011) Julien Ochala et al.   FASEB JOURNAL

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy

(2011) C. A. C. Ottenheijm et al.   HUMAN MOLECULAR GENETICS

Preserving sarcomere number after tenotomy requires stretch and contraction

(2011) Jonathan M. Van Dyke et al.   MUSCLE & NERVE

The Effects of Active and Passive Stretching on Muscle Length

(2011) Danny A. Riley et al.   Physical Medicine and Rehabilitation Clinics of North America

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

Lifting the Nebula: Novel Insights into Skeletal Muscle Contractility

(2010) Coen A. C. Ottenheijm et al.   PHYSIOLOGY

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

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