Neurofibromasmaymanifestasasporadicsubcutaneousnodule,asalarge,poorlydefinedsofttissuelesion,orasagrowthwithinanerve.NeurofibromasareassociatedwithNF1.
About50%ofmalignantperipheralnervesheathtumorsoccurdenovoinotherwisenormalpersons,whereastheremainderarisefromthemalignanttransformationofapreexistingNF1associatedneurofibroma.
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Berrih-Aknin S, Le Panse R: Myasthenia gravis: a comprehensive review of immune dysregulation and etiological mechanisms, J Autoimmun 52:90–100, 2014. [Review of subtypes and etiology of myasthenia gravis.]
Briemberg HR: Peripheral nerve complications of medical disease, Semin Neurol 29:124, 2009. [Review of the ways medical diseases including diabetes, connective tissue diseases, cancer, and infections affect peripheral nerves.]
Dalakas MC: Inflammatory muscle diseases, N Engl J Med 372:18, 2015. [Discussion of current concepts on the pathophysiology of idiopathic inflammatory myopathies.]
Falzarano MS, Scotton C, Passarelli C, et al: Duchenne muscular dystrophy: from diagnosis to therapy, Molecules 20:18168, 2015. [Molecular techniques for the diagnosis and treatment of this disease.]
Habib AA, Brannagan TH III: Therapeutic strategies for diabetic neuropathy, Curr Neurol Neurosci Rep 10:92, 2010. [Review focused especially on clinical features and therapy of diabetic neuropathy.]
Kang PB, Griggs RC: Advances in muscular dystrophies, JAMA 72:741, 2015. [An update on the molecular pathogenesis of muscular dystrophies and their treatment.]
Mahadeva B, Phillips LH, Juel VC: Autoimmune disorders of neuromuscular transmission, Semin Neurol 28:212, 2008. [Review of myasthenia gravis and Lambert-Eaton syndrome.]
McClatchey AI: Neurofibromatosis, Annu Rev Pathol 2:191, 2007. [Review of features that distinguish neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis, with a focus on the genetics.]
Obrosova IG: Diabetes and the peripheral nerve, Biochim Biophys Acta 1792:931, 2009. [Detailed discussion of the pathophysiology of diabetic neuropathy.]
Petrilli AM, Fernández-Valle C: Role of Merlin/NF2 inactivation on tumor biology, Oncogene 35:537–548, 2016. [Mechanisms of action of the NF2 gene in the pathogenesis of neuronal tumors.]
Ravenscroft G, Laing NG, Bönnemann CG: Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus, Brain 138:246, 2015. [A review of the overlapping and nonoverlapping genetic lesions in congenital myopathies.]