Classification and molecular diagnostic procedure for Chacort-Marie-Tooth disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 553-557, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-232258
ABSTRACT
Charcot-Marie-Tooth disease (CMT) is the most common form of hereditary neuropathy with significant clinical and genetic heterogeneity. So far 28 genes have been cloned. The main clinical manifestations of CMT include progressive distal muscle wasting and weakness, impaired distal sensation, and diminishing or loss of tendon reflex. Patients may be classified into demyelinating type (CMT1) and axonal type (CMT2) according to electrophysiological and pathological characteristics. Establishment of a standard diagnostic procedure based on clinical, electrophysiological and pathological findings will enable accurate diagnosis in most CMT patients and provide guidance for gene consulting and prognosis.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Charcot-Marie-Tooth Disease
/
Classification
/
Diagnosis
/
Genetics
Type of study:
Diagnostic study
/
Practice guideline
/
Prognostic study
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2012
Type:
Article
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