Clinical Delineation and Localization to Chromosome 9p13.3–p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia

Autosomal dominant myopathy, Paget disease of bone, and dementia constitute a unique disorder (MIM 605382). Here we describe the clinical, biochemical, radiological, and pathological characteristics of 49 affected (23 male, 26 female) individuals from four unrelated United States families. Among the...

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Pubblicato in:Mol Genet Metab
Autori principali: Kovach, Margaret J., Waggoner, Brook, Leal, Suzanne M., Gelber, David, Khardori, Romesh, Levenstien, Mark A., Shanks, Christy A., Gregg, Gregory, Al-Lozi, Muhammad T., Miller, Timothy, Rakowicz, Wojtek, Lopate, Glenn, Florence, Juliane, Glosser, Guila, Simmons, Zachary, Morris, John C., Whyte, Michael P., Pestronk, Alan, Kimonis, Virginia E.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2001
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6277059/
https://ncbi.nlm.nih.gov/pubmed/11749051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1006/mgme.2001.3256
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