Further insights in nemaline myopathy (NM) with hyaline masses


Nemaline myopathies (NM) comprehend a heterogeneous group of rare congenital muscle conditions characterised by hypotonia, muscle weakness, skeletal deformities with nemaline bodies (rods) in muscle biopsy. Here we describe four NM patients with distinctive hyaline masses in the muscle biopsy in addition to the typical NM histological features. Age at onset varied from early childhood, presenting with myopathy, skeletal deformities and retard on developmental motor milestones, to late-onset-myopathy beginning in the third decade as progressive generalized amyotrophy and muscle weakness.


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