Literature DB >> 11513338

Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies.

T J Benstead1, I A Grant.   

Abstract

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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Year:  2001        PMID: 11513338     DOI: 10.1017/s0317167100001347

Source DB:  PubMed          Journal:  Can J Neurol Sci        ISSN: 0317-1671            Impact factor:   2.104


  1 in total

1.  Long-term analyses of innervation and neuromuscular integrity in the Trembler-J mouse model of Charcot-Marie-Tooth disease.

Authors:  Jessica Renee Nicks; Sooyeon Lee; Kathryne Ann Kostamo; Andrew Benford Harris; Amanda M Sookdeo; Lucia Notterpek
Journal:  J Neuropathol Exp Neurol       Date:  2013-10       Impact factor: 3.685

  1 in total

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