ID
45363
Description
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.
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Versions (1)
- 04/11/2022 04/11/2022 - Chiara Middel
Détendeur de droits
Fuki M. Hisama, MD, University of Washington, Seattle, WA, USA
Téléchargé le
4 novembre 2022
DOI
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Licence
Creative Commons BY 4.0
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dbGaP phs000541 Next Generation Mendelian Genetics: Muscle Hypertrophy
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Eligibility Criteria
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C0442801 (UMLS CUI [1,2])
C0949649 (UMLS CUI [1,3])
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C0036087 (UMLS CUI [1,3])
C0005767 (UMLS CUI [1,4])
C0012854 (UMLS CUI [1,5])
C0185115 (UMLS CUI [1,6])