Nemaline myopathies

C Wallgren-Pettersson, CA Sewry, KJ Nowak… - Seminars in pediatric …, 2011 - Elsevier
Nemaline myopathy constitutes a continuous spectrum of primary skeletal muscle disorders
named after the Greek word for thread, nema. The diagnosis is based on muscle weakness,
combined with visualization of nemaline bodies on muscle biopsy. The patients' muscle
weakness is usually generalized, but there may be a selective pattern of more pronounced
weakness, and, most importantly, respiratory muscles may be especially weak.
Histologically, additional features may coexist with the nemaline bodies. There are 7 known …