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Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes.

The muscle biopsy results from 14 children with macrocephaly and hypotonia/weakness were correlated with clinical findings compatible with any of the autosomal dominant macrocephaly syndromes. Thirteen of the 14 had evidence of lipid storage myopathy, either generalised or focal. All 13 had examinat...

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Detalles Bibliográficos
Autor principal: DiLiberti, J H
Formato: Artigo
Lenguaje:Inglês
Publicado: 1992
Materias:
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015821/
https://ncbi.nlm.nih.gov/pubmed/1552544
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