Nemaline myopathy: clinical, histochemical and immunohistochemical features

Arquivos de Neuro-Psiquiatria

Nazah Cherif Mohamad Youssef¹  Rosana Herminia Scola¹  Paulo José Lorenzoni¹  Lineu César Werneck¹ 

[1] ,Universidade Federal do Paraná Hospital de Clínicas Internal Medicine DepartmentCuritiba PR ,Brasil

关键词: nemaline myopathy;    nebulin;    desmin;    myosin;    immunohistochemistry;    miopatia nemalínica;    nebulina;    desmina;    miosina;    imuno-histoquímica;   

DOI  :  10.1590/S0004-282X2009000500020

来源: SciELO

【 摘 要 】

Nemaline myopathy (NM) is a congenital disease that leads to hypotonia and feeding difficulties in neonates. Some cases have a more benign course, with skeletal abnormalities later in life. We analyzed a series of eight patients with NM obtained from a retrospective analysis of 4300 muscle biopsies. Patients were classified as having the typical form in five cases, intermediate form in two cases and severe form in one case. Histochemical analysis showed mixed rods distribution in all cases and predominance of type I fibers in five cases. Immunohistochemical analysis showed abnormal nebulin expression in all patients (four heterogeneous and four absent), homogeneous desmin expression in four cases, strongly positive in three and absent in one, fast myosin expression in a mosaic pattern in six cases and absent in two cases. There was no specific relation between these protein expression patterns and the clinical forms of NM.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License