The classification of Charcot-Marie-Tooth disease and related hereditary motor and sensory neuropathies has evolved to incorporate clinical, electrophysiological and burgeoning molecular genetic information that characterize the many disorders. For several inherited neuropathies, the gene product abnormality is known and for others, candidate genes have been identified. Genetic testing can pinpoint a specific inherited neuropathy for many patients. However, clinical and electrophysiological assessments continue to be essential tools for diagnosis and management of this disease group. This article reviews clinical, electrophysiological, pathological and molecular aspects of hereditary motor and sensory neuropathies.
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Med Univ Innsbruck, Inst Human Genet, Peter Mayr Str 1, A-6020 Innsbruck, AustriaMed Univ Innsbruck, Inst Human Genet, Peter Mayr Str 1, A-6020 Innsbruck, Austria
Rudnik-Schoeneborn, Sabine
Auer-Grumbach, Michaela
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Med Univ Vienna, Dept Orthopaed & Traumatol, Vienna, AustriaMed Univ Innsbruck, Inst Human Genet, Peter Mayr Str 1, A-6020 Innsbruck, Austria
Auer-Grumbach, Michaela
Senderek, Jan
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Ludwig Maximilians Univ Munchen, Friedrich Baur Inst, Munich, GermanyMed Univ Innsbruck, Inst Human Genet, Peter Mayr Str 1, A-6020 Innsbruck, Austria