CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

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Congenital titinopathy is a prenatal/infant-onset genetic muscle disorder caused by recessive TTN mutations. The true prevalence of of this disorder remains unknown, however the number of confirmed cases is climbing exponentially. We have identified four informative congenital titinopathy cases with convincingly pathogenic TTN mutations in trans. These cases extend our understanding of the spectrum of weakness and additional clinical features that can be associated with this emerging titinopathy.

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