Inherited neuropathies - 01/09/11

Doi : 10.1016/S0733-8619(01)00016-0

Kleopas A Kleopa, MD ^a,^⁎ , Steven S Scherer, MD, PhD ²
^a The University of Pennsylvania Medical Center 3400 Spruce Street, 3 West Gates Philadelphia, PA 19104, USA
^b The University of Pennsylvania Medical Center, Room 460 Stemmler Hall, 36th Street and Hamilton Walk, Philadelphia, PA 19104-6077, USA

Corresponding author

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Neurons and axonal neuropathies

Myelinating Schwann cells and demyelinating neuropathies

Classifying inherited neuropathies

The problems of classification

PMP22 deletions cause HNPP

PMP22 duplication causes CMT1A

PMP22 mutations cause DSS, CMT1A, and HNPP

MPZ mutations cause DSS, CMT1B, and a CMT2-like phenotype

GJB1 mutations cause CMT1X

EGR2 mutations cause CMT1 and DSS

Dominantly inherited axonal neuropathies (CMT2)

Recessively inherited demyelinating neuropathies (CMT4)

Recessively inherited axonal neuropathies

Making a molecular diagnosis and therapeutic implications

Summary

This work was supported by an advanced postdoctoral fellowship award from the National Multiple Sclerosis Society (KAK) and by the NIH (SSS).

Esportazione

Vol 20 - N° 3

P. 679-709 - agosto 2002 Ritorno al numero

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Inherited neuropathies - 01/09/11

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