Disease: Nemaline myopathy 3
- A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report
- A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism
- A review of major causative genes in congenital myopathies
- ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles
- Arrhythmias in patients with X-linked myotubular myopathy
- Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center
- Detecting impaired muscle relaxation in myopathies with the use of motor cortical stimulation
- Dropped Head Syndrome As a Presenting Sign of Different Diseases: Report of Three Cases
- Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3)
- Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene
- HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report
- Immunoreactivity of antibodies raised against synthetic peptide fragments predicted from mid portions of dystrophin cDNA
- Intestinal Pathology in Patients With Pathogenic <em>ACTG2</em>-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature
- KBTBD13 is a novel cardiomyopathy gene
- Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy
- Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern
- Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report
- Observations of nemaline bodies in muscle biopsies of critically ill patients infected with SARS-CoV-2
- Removal of MuRF1 Increases Muscle Mass in Nemaline Myopathy Models, but Does Not Provide Functional Benefits
- Respiratory muscle function in patients with nemaline myopathy
- Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature
- Therapeutic Play Gym: Feasibility of a Caregiver-Mediated Exercise System for NICU Graduates with Neuromuscular Weakness-A Case Series