A Case of Charcot-Marie-Tooth 1A Showing Atypical Clinical and Pathological Features
Journal of the Korean Neurological Association
;
: 494-498, 2000.
Article
in Korean
| WPRIM
| ID: wpr-146843
ABSTRACT
A 7 year-old girl presented with generalized muscle weakness and delayed motor development. She was able to stand up at 15 months and began to walk at 4 years of age. A nerve conduction study showed severe demyelinating neuropa-thy .There was no family history of peripheral neuropathy, and her parents and younger brother were clinically and electrophysiologically normal. A sural nerve biopsy showed moderate loss of myelinated fibers with onion-bulb forma-tions. Many teased nerve fibers revealed typical tomaculous changes. However the molecular genetic study of the patient confirms the duplication of 17p11.2-p22 on a polymerase chain reaction using D17S261 as a primer but not in her parents.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parents
/
Phenotype
/
Sural Nerve
/
Biopsy
/
Charcot-Marie-Tooth Disease
/
Polymerase Chain Reaction
/
Peripheral Nervous System Diseases
/
Muscle Weakness
/
Siblings
/
Genotype
Limits:
Child
/
Female
/
Humans
Language:
Korean
Journal:
Journal of the Korean Neurological Association
Year:
2000
Type:
Article
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