Disease: Minicore myopathy with external ophthalmoplegia
- A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia
- A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy
- Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations
- An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene
- Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation
- Congenital myopathies
- Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy
- Core myopathies - a short review
- Cored in the act: the use of models to understand core myopathies
- Erroneous diagnosis corrected after 28 years. Not spinal muscular atrophy with ophthalmoplegia but minicore myopathy
- Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype
- First report on multidrug-resistant non-encapsulated Streptococcus pneumoniae isolated from a patient with pneumonia
- Gene Panel Sequencing Identifies a Novel <em>RYR1</em> p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy
- Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum
- Increasing Role of Titin Mutations in Neuromuscular Disorders
- Left ventricular noncompaction in a patient with multiminicore disease
- Minicore myopathy in children: a clinical and histopathological study of 19 cases
- Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene
- Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies
- Motor function performance in individuals with RYR1-related myopathies
- Multi-minicore Disease
- New Compound Heterozygous Splice Site Mutations of the Skeletal Muscle Ryanodine Receptor (<em>RYR1</em>) Gene Manifest Fetal Akinesia: A Linkage with Congenital Myopathies
- Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report
- Obstetric outcome in a primigravid patient with autosomal-recessive multiminicore myopathy
- Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres
- Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
- Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement
- Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing
- Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature