Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations

Pelizaeus‐Merzbacher disease (PMD) is a dysmyelinating disorder of the central nervous system typically caused by duplications or missense mutations of the proteolipid protein (PLP) gene. Most investigators have found that peripheral nerve function and structure is normal in PMD patients. We have fo...

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Veröffentlicht in:	Annals of the New York Academy of Sciences 1999-10, Vol.883 (1), p.351-365
Hauptverfasser:	GARBERN, JAMES Y., CAMBI, FRANCA, LEWIS, RICHARD, SHY, MICHAEL, SIMA, ANDERS, KRAFT, GEORGE, VALLAT, J. M., BOSCH, E. P., HODES, M. E., DLOUHY, STEPHEN, RASKIND, WENDY, BIRD, THOMAS, MACKLIN, WENDY, KAMHOLZ, JOHN
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Animals Family Female Humans Male Mice Models, Molecular Molecular Sequence Data Mutation Myelin Proteolipid Protein - chemistry Myelin Proteolipid Protein - genetics Nerve Fibers, Myelinated - pathology Nerve Fibers, Myelinated - ultrastructure Pelizaeus-Merzbacher Disease - genetics Pelizaeus-Merzbacher Disease - pathology Peripheral Nerves - pathology Peripheral Nerves - ultrastructure Protein Conformation
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