نتایج جستجو برای: congenital myopathy
تعداد نتایج: 131548 فیلتر نتایج به سال:
Nemaline myopathy (NM) is a congenital typically characterized by skeletal muscle weakness and the presence of abnormal thread- or rod-like structures (nemaline bodies) in myofibres. Pathogenic variants alpha actin gene, ACTA1, cause approximately 25% all NM cases. We generated two induced pluripotent stem cell lines from lymphoblastoid cells 4-month-old female with severe harbouring dominant v...
OBJECTIVE Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy. CNM has been associated with mutations in MTM1, DNM2, and BIN1 but many cases remain genetically unresolved. RYR1 encodes the principal sarcoplasmic reticulum calcium release channel and has been implicated in various congenital myopathies. We investigated whether...
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...
X-linked myotubular myopathy (XLMTM) is a congenital neuromuscular disorder characterized by profound hypotonia and severe skeletal muscle weakness in the affected newborn males. The pathology is associated with mutations in the MTM1 gene leading to loss of function of the resulting encoded protein, myotubularin. Myotubularin is a phosphoinositol lipid phosphases known to be involved in endosom...
We would be particularly interested to hear more about the clinical phenotype and epidemiology of this cohort of patients. The authors have, for example, included phenotypic patients with facial weakness in their grouping. This is of significance because the international guidelines (ENMC, 1998) regard these as exclusion criteria for SMA. In our cohort of patients, facial weakness in the SMA mo...
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