Nemaline myopathy: clinical, histochemical and immunohistochemical features

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....

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Bibliographic Details
Published in:Arquivos de neuro-psiquiatria 2009-09, Vol.67 (3B), p.886-891
Main Authors: Youssef, Nazah Cherif Mohamad, Scola, Rosana Herminia, Lorenzoni, Paulo José, Werneck, Lineu César
Format: Article
Language:English
Subjects:
Biopsy
Child
Child, Preschool
Desmin - metabolism
Electromyography
Female
Humans
Immunohistochemistry
Infant
Male
Muscle Proteins - metabolism
Muscles - pathology
Myopathies, Nemaline - metabolism
Myopathies, Nemaline - pathology
Myosins - metabolism
NEUROSCIENCES
PSYCHIATRY
Retrospective Studies
Severity of Illness Index
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Summary: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.
ISSN:0004-282X
1678-4227
1678-4227
0004-282X
DOI:10.1590/S0004-282X2009000500020