Ultrastructure and electrodiagnosis of peripheral neuropathy in cockayne’s syndrome

Margaret L. Grunnet; Andrew W. Zimmerman; Richard A. Lewis

Ultrastructure and electrodiagnosis of peripheral neuropathy in cockayne’s syndrome

Margaret L. Grunnet
, Andrew W. Zimmerman
, Richard A. Lewis

Research output: Contribution to journal › Article › peer-review

Abstract

Cockayne’s syndrome is a multisystem disease that begins in infancy and is inherited as an autosomal recessive. We studied a 4-year-old girl with nystagmus, ataxia, motor weakness, peripheral neuropathy, deficient growth, and developmental delay. Nerve biopsy revealed segmental demyelination and granular lysosomal inclusions on ultrastructural examination.

Original language	English (US)
Pages (from-to)	1606-1609
Number of pages	4
Journal	Neurology
Volume	33
Issue number	12
State	Published - 1983
Externally published	Yes

ASJC Scopus subject areas

Arts and Humanities (miscellaneous)
Clinical Neurology
General Neuroscience

Cite this

@article{438802ef69884489ae0b8b158fd8a31b,

title = "Ultrastructure and electrodiagnosis of peripheral neuropathy in cockayne{\textquoteright}s syndrome",

abstract = "Cockayne{\textquoteright}s syndrome is a multisystem disease that begins in infancy and is inherited as an autosomal recessive. We studied a 4-year-old girl with nystagmus, ataxia, motor weakness, peripheral neuropathy, deficient growth, and developmental delay. Nerve biopsy revealed segmental demyelination and granular lysosomal inclusions on ultrastructural examination.",

author = "Grunnet, \{Margaret L.\} and Zimmerman, \{Andrew W.\} and Lewis, \{Richard A.\}",

year = "1983",

language = "English (US)",

volume = "33",

pages = "1606--1609",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

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TY - JOUR

T1 - Ultrastructure and electrodiagnosis of peripheral neuropathy in cockayne’s syndrome

AU - Grunnet, Margaret L.

AU - Zimmerman, Andrew W.

AU - Lewis, Richard A.

PY - 1983

Y1 - 1983

N2 - Cockayne’s syndrome is a multisystem disease that begins in infancy and is inherited as an autosomal recessive. We studied a 4-year-old girl with nystagmus, ataxia, motor weakness, peripheral neuropathy, deficient growth, and developmental delay. Nerve biopsy revealed segmental demyelination and granular lysosomal inclusions on ultrastructural examination.

AB - Cockayne’s syndrome is a multisystem disease that begins in infancy and is inherited as an autosomal recessive. We studied a 4-year-old girl with nystagmus, ataxia, motor weakness, peripheral neuropathy, deficient growth, and developmental delay. Nerve biopsy revealed segmental demyelination and granular lysosomal inclusions on ultrastructural examination.

UR - https://www.scopus.com/pages/publications/0021016058

UR - https://www.scopus.com/pages/publications/0021016058#tab=citedBy

M3 - Article

C2 - 6316205

AN - SCOPUS:0021016058

SN - 0028-3878

VL - 33

SP - 1606

EP - 1609

JO - Neurology

JF - Neurology

IS - 12

ER -

Ultrastructure and electrodiagnosis of peripheral neuropathy in cockayne’s syndrome

Abstract

ASJC Scopus subject areas

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