• A mutation in myotilin causes spheroid body myopathy
• A novel in-frame deletion in MYOT causes an early adult onset distal myopathy
• An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
• Congenital myopathies with inclusion bodies: a brief review
• Cytoplasmic body myopathy (spheroid body myopathy)
• Endothelial ultrastructural alterations of intramuscular capillaries in infantile mitochondrial cytopathies: "mitochondrial angiopathy"
• Expression of myotilin during chicken development
• Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material without mutation of the alphabeta-crystallin gene
• Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?
• Hepatocyte-derived cultured cells with unusual cytoplasmic keratin-rich spheroid bodies
• Myofibrillar myopaathy
• Protein aggregation in congenital myopathies
• Spheroid body myopathy: case report
• Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice
• Tenosynovitis with psammomatous calcification: a poorly recognized pseudotumor related to repetitive tendinous injury
• Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM