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Tel Hashomer camptodactyly syndrome: report of a case with myopathic features.

A child with the Tel Hashomer camptodactyly syndrome is reported. Although muscle weakness and hypoplasia are reported features of this syndrome, further investigation of muscle function has not previously been carried out. We report a raised creatine kinase and an abnormal electromyogram and muscle...

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Autors principals: Patton, M A, McDermot, K D, Lake, B D, Baraitser, M
Format: Artigo
Idioma:Inglês
Publicat: 1986
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049643/
https://ncbi.nlm.nih.gov/pubmed/3723560
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