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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2004-8-24
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pubmed:abstractText |
A Czech family with three individuals carrying a novel mutation, 290 A-->T (Glu97Val), in the myelin protein zero gene (P0) is reported. The two eldest carriers developed progressive sensorineural hearing loss and abnormal pupillary reaction at age 18. These preceded the onset of the classic signs of Charcot-Marie-Tooth disease (CMT) by more than a decade. Sural nerve biopsy and nerve conduction studies were compatible with the axonal type of CMT. The authors show that progressive hearing loss can be the first symptom in P0 mutation carriers.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
24
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pubmed:volume |
63
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
733-5
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15326256-Adult,
pubmed-meshheading:15326256-Age of Onset,
pubmed-meshheading:15326256-Aged,
pubmed-meshheading:15326256-Amino Acid Substitution,
pubmed-meshheading:15326256-Biopsy,
pubmed-meshheading:15326256-Charcot-Marie-Tooth Disease,
pubmed-meshheading:15326256-Czechoslovakia,
pubmed-meshheading:15326256-Disease Progression,
pubmed-meshheading:15326256-Exons,
pubmed-meshheading:15326256-False Negative Reactions,
pubmed-meshheading:15326256-Female,
pubmed-meshheading:15326256-Hearing Loss, Sensorineural,
pubmed-meshheading:15326256-Humans,
pubmed-meshheading:15326256-Male,
pubmed-meshheading:15326256-Mutation, Missense,
pubmed-meshheading:15326256-Myelin P0 Protein,
pubmed-meshheading:15326256-Neural Conduction,
pubmed-meshheading:15326256-Pedigree,
pubmed-meshheading:15326256-Phenotype,
pubmed-meshheading:15326256-Point Mutation,
pubmed-meshheading:15326256-Reflex, Abnormal,
pubmed-meshheading:15326256-Reflex, Pupillary,
pubmed-meshheading:15326256-Sural Nerve
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pubmed:year |
2004
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pubmed:articleTitle |
Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.
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pubmed:affiliation |
Department of Child Neurology, Second School of Medicine, Charles University Prague, V úvalu 84, 150 06 Praha 5, Czech Republic. pavel.seeman@lfmotol.cuni.cz
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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