CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

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Amish nemaline myopathy is a severe form of nemaline myopathy (NM) common among the old order Amish. The phenotype is characterized by early onset of severe hypotonia and mild contractures of the shoulders and hips. Progressive worsening of the proximal contractures, weakness, and a pectus carinatum deformity develop before the children die of respiratory insufficiency, usually by the second year of life. This phenotype has been associated to the p.Glu180Ter mutation in exon 11 of TNNT1 (TnT). We report on two Italian siblings affected by a severe form of congenital myopathy with a clinical picture very similar to the Amish phenotype.

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