Disease: Distal myopathy with vocal cord weakness
- A mutant MATR3 mouse model to explain multisystem proteinopathy
- Analysis of spinal and muscle pathology in transgenic mice overexpressing wild-type and ALS-linked mutant MATR3
- Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3
- Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation
- Distal myopathies
- Distal myopathies: from clinical classification to molecular understanding
- Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
- First Family of <em>MATR3</em>-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease
- Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis
- Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM)
- Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
- Neurofibromatosis Type 2 Presenting with Oculomotor Ophthalmoplegia and Distal Myopathy
- Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients
- Phenotype of matrin-3-related distal myopathy in 16 German patients
- The p.S85C-mutation in MATR3 impairs stress granule formation in Matrin-3 myopathy
- Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype
- Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31