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. 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.
Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brasil.
Nazah Cherif Mohamad
NC
Youssef
Rosana Herminia
RH
Scola
Paulo José
PJ
Lorenzoni
Lineu César
LC
Werneck
D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003893:Desmin / Q000378:metabolism*; D004576:Electromyography; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D009124:Muscle Proteins / Q000378:metabolism*; D009132:Muscles / Q000473:pathology*; D017696:Myopathies, Nemaline / Q000378:metabolism / Q000473:pathology*; D009218:Myosins / Q000378:metabolism*; D012189:Retrospective Studies; D012720:Severity of Illness Index
D003893:Desmin; D009124:Muscle Proteins; C035620:nebulin; D009218:Myosins