Your browser doesn't support javascript.
loading
Clinical, pathological and genetic studies in a Chinese Charcot-Marie-Tooth disease type 2 family / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences ; (6): 529-533, 2005.
Artigo em Chinês | WPRIM | ID: wpr-355168
ABSTRACT
<p><b>OBJECTIVE</b>To report a Chinese Charcot-Marie-Tooth disease type 2 (CMT2) family.</p><p><b>METHODS</b>All the members in the family were studied clinically,and 6 patients were studied electrophysiologically. Sural nerve biopsy was performed in the proband. PMP22 gene duplications were detected by highly polymorphic short tandem repeat. Point mutation analysis of PMP22, MPZ and NEFL gene was screened by PCR-SSCP combined with DNA direct sequencing. A genome-wide screening was carried out to the family.</p><p><b>RESULT</b>Except 2 who had weakness and atrophy in both proximal and distal muscles of the lower limbs, all patients presented muscle wasting and a predominating weakness of distal parts of the lower limbs, and mild to moderate sensory impairments. In 6 patients who were subjected to elctrophysiological examinations, median-nerve conduction velocity (NCV) of the median nerve was normal. Electromyograms (EMGs) revealed signs of denervation with large motor unit potentials, fibrillation potentials and positive sharp waves. Sural nerve biopsy of the proband confirmed the presence of axonal neuropathy with an important loss of large myelinating fibers and a large number of clusters with mostly thinly myelinated axons. PMP22, MPZ and NEFL gene mutations were not found. The results of genome-wide screening revealed a linkage of CMT2 to a locus at chromosome 12q24.</p><p><b>CONCLUSION</b>The results are consistent with the diagnosis of CMT2. This family represents a rare genetic type of CMT2 which can be designated as CMT2L.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Patologia / Linhagem / Cromossomos Humanos Par 12 / Doença de Charcot-Marie-Tooth / Povo Asiático / Eletromiografia / Genética Limite: Adolescente / Adulto / Feminino / Humanos / Masculino Idioma: Chinês Revista: Journal of Zhejiang University. Medical sciences Ano de publicação: 2005 Tipo de documento: Artigo

Similares

MEDLINE

...
LILACS

LIS

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Patologia / Linhagem / Cromossomos Humanos Par 12 / Doença de Charcot-Marie-Tooth / Povo Asiático / Eletromiografia / Genética Limite: Adolescente / Adulto / Feminino / Humanos / Masculino Idioma: Chinês Revista: Journal of Zhejiang University. Medical sciences Ano de publicação: 2005 Tipo de documento: Artigo