ID
45363
Descrizione
Principal Investigator: Fuki M. Hisama, MD, University of Washington, Seattle, WA, USA MeSH: Hypertrophy https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000541 The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. Samples were collected from a single, multi-generational family with the same phenotype of exaggerated muscular development (muscular hypertrophy) and strength characterized by reduced fat pad thickness under the skin. All family members deny "body building" activities, and are so far negative for known gene mutation that have been identified as associated with excessive muscle development. All family members have examples of demonstrating extraordinary strength occurring both in childhood and old age. No negative associated phenotype traits with the muscle hypertrophy phenotype have been identified.
collegamento
Keywords
versioni (1)
- 04/11/22 04/11/22 - Chiara Middel
Titolare del copyright
Fuki M. Hisama, MD, University of Washington, Seattle, WA, USA
Caricato su
4 novembre 2022
DOI
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Licenza
Creative Commons BY 4.0
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dbGaP phs000541 Next Generation Mendelian Genetics: Muscle Hypertrophy
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