CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

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Recessive NEB gene mutations are the most common cause of nemaline myopathy (NM), characterized by early onset generalized weakness and nemaline rods on muscle histopathology. Here we report a clinical, pathological, and genetic evaluation of 46 patients (42 families) with NEB-related NM referred for diagnosis to the Dubowitz Neuromuscular Centre. NEB gene analysis was performed by next generation sequencing. Review of available clinical data suggests a typical course in 26/38 patients, with onset at birth/first year of life, hypotonia and/or developmental delay.

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