Laing distal myopathy pathologically resembling inclusion body myositis

Mutations in MYH7 cause autosomal dominant Laing distal myopathy. We present a family with a previously reported deletion (c.5186_5188delAGA, p.K1729del). Muscle pathology in one family member was characterized by an inflammatory myopathy with rimmed vacuoles, increased MHC Class I expression, and p...

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Dettagli Bibliografici
Pubblicato in:Ann Clin Transl Neurol
Autori principali: Roda, Ricardo H, Schindler, Alice B, Blackstone, Craig, Mammen, Andrew L, Corse, Andrea M, Lloyd, Thomas E
Natura: Artigo
Lingua:Inglês
Pubblicazione: Blackwell Publishing Ltd 2014
Soggetti:
Brief Communications
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4284131/
https://ncbi.nlm.nih.gov/pubmed/25574480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.140
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