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Nemaline myopathy type 6: clinical and myopathological features

INTRODUCTION: Nemaline myopathy (NEM) is one of the most common congenital myopathies. A unique subtype, NEM6, maps to chromosome 15q21-q23 in two pedigrees, but the causative gene has not been determined. METHODS: We conducted clinical examination and myopathological studies in a new NEM family. Ge...

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Autori principali: Olivé, Montse, Goldfarb, Lev G, Lee, Hee-Suk, Odgerel, Zagaa, Blokhin, Andre, Gonzalez-Mera, Laura, Moreno, Dolores, Laing, Nigel G, Sambuughin, Nyamkhishig
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3057880/
https://ncbi.nlm.nih.gov/pubmed/21104864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.21788
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