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Orphanet journal of rare diseases, ISSN 1750-1172, 05/2019, Volume 14, Issue 1, pp. 100 - 10
Journal Article
Journal Article
BMC Neurology, ISSN 1471-2377, 03/2013, Volume 13, Issue 1, pp. 29 - 29
Background: Hereditary myopathy with early respiratory failure (HMERF) was described in several North European families and recently linked to a titin gene... 
Fibronectin type III | Respiratory failure | Titin | Titin A-band mutation | HMERF | Myopathy | AUTOSOMAL-DOMINANT MYOPATHY | MUSCULAR-DYSTROPHY | MUSCLE | PROTEIN AGGREGATE MYOPATHIES | DILATED CARDIOMYOPATHY | CLINICAL NEUROLOGY | CYCLIN-DEPENDENT KINASES | ONSET MYOPATHY | Z-LINE | TDP-43 ACCUMULATION | MYOFIBRILLAR MYOPATHY | Protein Kinases - genetics | Connectin | Genetic Diseases, Inborn - ethnology | Muscle Strength - genetics | Humans | Respiratory Insufficiency - diagnosis | Genetic Diseases, Inborn - genetics | Family Health | Male | Muscle, Skeletal - metabolism | Tomography, X-Ray Computed | Young Adult | Muscular Diseases - ethnology | DNA Mutational Analysis | Muscle Proteins - metabolism | Adult | Female | Electromyography | Genetic Diseases, Inborn - diagnosis | Disability Evaluation | United States - ethnology | Muscle, Skeletal - ultrastructure | Respiratory Insufficiency - ethnology | Mutation - genetics | Muscle Proteins - genetics | Muscular Diseases - diagnosis | Exome - genetics | Respiratory Insufficiency - genetics | Muscle, Skeletal - diagnostic imaging | Muscle, Skeletal - physiopathology | Adolescent | Polymorphism, Single Nucleotide | Muscular Diseases - genetics | Medical research | Respiratory insufficiency | Gene mutations | Exome sequencing | Medicine, Experimental | Muscle diseases | Pulmonary function tests | Diagnosis | Muscle proteins | Proteins | Studies | Genetics | Mutation | Kinases | Biopsy
Journal Article
Expert Reviews in Molecular Medicine, ISSN 1462-3994, 2008, Volume 10, Issue 25, pp. 1 - 21
Myofibrillar myopathies (MFMs) are clinically and genetically heterogeneous muscle disorders that are defined morphologically by the presence of foci of... 
Journal Article
Current Opinion in Neurology, ISSN 1350-7540, 2016, Volume 29, Issue 5, pp. 628 - 634
Myofibrillar myopathies (MFMs) are hereditary muscle disorders characterized by distinct histopathological features. This review provides an overview of recent... 
Animal model | Therapy | Phenotype | Myofibrillar myopathy | Proteomic analysis
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 82 - 82
Journal Article
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 1396 - 14
Journal Article
Brain, ISSN 0006-8950, 2012, Volume 135, Issue 9, pp. 2642 - 2660
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2009, Volume 17, Issue 5, pp. 656 - 663
Journal Article
Journal Article