Clinical and pathological features of patients with nemaline myopathy
نویسندگان
چکیده
منابع مشابه
Clinical and pathological features of patients with nemaline myopathy.
Nemaline myopathy (NM) is a rare congenital myopathy of great heterogeneity, characterized by the presence of rods in the cytoplasm of muscle fibers. This study aimed to summarize and analyze retrospectively the clinicopathological features of 28 patients with NM. Among the 28 patients, 15 were classified as of the typical congenital type, manifested as lower- or four-limb weakness as the first...
متن کاملNemaline 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 case...
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متن کاملClinical and Pathological Features of Childhood-Onset Nemaline Myopathy: A Report of Four Cases
We examined whether immunological abnormalities can be found in the specimens of four childhood-onset nemaline myopathy (NM) patients without autoimmune diseases. Pathological examination revealed that nemaline rods were found in all specimens. The immunohistochemical results showed that CD4 positive cells and some other cells were gathered among the necrotic muscle fibers. We conclude that imm...
متن کاملClinical Heterogeneity in Korean Patients with Nemaline Myopathy
PURPOSE Nemaline myopathy (NM) is a clinical heterogeneous congenital myopathy characterized by the presence of subsarcolemmal or cytoplasmic rod-like structures that call nemaline bodies in the muscle fibers. The purpose of this study was to investigate the clinical diversity and pathological features of Korean patients with NM. MATERIALS AND METHODS Eight patients underwent analyses of clin...
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ژورنال
عنوان ژورنال: Molecular Medicine Reports
سال: 2014
ISSN: 1791-2997,1791-3004
DOI: 10.3892/mmr.2014.2184