A new phenotype of autosomal dominant nemaline myopathy.
SourceNeuromuscular Disorders, 12, 1, (2002), pp. 13-18
Article / Letter to editor
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SubjectNeuromuscular and neurometabolic disorders; Elucidation of hereditary disorders and their molecular diagnosis; Tumor pathology; Neuromusculaire en neurometabole aandoeningen; Opheldering van erfelijke ziekten en hun moleculaire diagnostiek; Tumor pathologie
We present a five-generation family with a novel phenotype of autosomal dominant nemaline myopathy not linked to the three genes known to be causative for nemaline myopathy (alpha-tropomyosin-3, nebulin, and alpha-actin). Although there was muscle weakness in the neck flexors and proximal muscles of the limbs, as found in other families, facial, ankle dorsiflexor and respiratory muscles were normal. The most remarkable clinical feature was a peculiar kind of slowness in movement not reported previously in nemaline myopathy.
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