Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

A male neonate presented with severe weakness, hypotonia, contractures and congenital scoliosis. Skeletal muscle specimens showed marked atrophy and degeneration of fast fibres with striking nemaline rods and hypertrophy of slow fibres that were ultrastructurally normal. A neuromuscular gene panel i...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Sandaradura, Sarah A, Bournazos, Adam, Mallawaarachchi, Amali, Cummings, Beryl B, Waddell, Leigh B, Jones, Kristi J, Troedson, Christopher, Sudarsanam, Annapurna, Nash, Benjamin M, Peters, Gregory B, Algar, Elizabeth M, MacArthur, Daniel G, North, Kathryn N, Brammah, Susan, Charlton, Amanda, Laing, Nigel G, Wilson, Meredith J, Davis, Mark R, Cooper, Sandra T
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5805634/
https://ncbi.nlm.nih.gov/pubmed/29266598
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23385
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