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.
Link
Keywords
Versions (1)
- 11/4/22 11/4/22 - Chiara Middel
Copyright Holder
Fuki M. Hisama, MD, University of Washington, Seattle, WA, USA
Uploaded on
November 4, 2022
DOI
To request one please log in.
License
Creative Commons BY 4.0
Model comments :
You can comment on the data model here. Via the speech bubbles at the itemgroups and items you can add comments to those specificially.
Itemgroup comments for :
Item comments for :
In order to download data models you must be logged in. Please log in or register for free.
dbGaP phs000541 Next Generation Mendelian Genetics: Muscle Hypertrophy
Similar models
Eligibility Criteria
C1266852 (UMLS CUI [1,2])
C0442801 (UMLS CUI [1,2])
C0949649 (UMLS CUI [1,3])
C0332288 (UMLS CUI [1,4])
C4279936 (UMLS CUI [1,5])
C0425263 (UMLS CUI [1,2])
C0036087 (UMLS CUI [1,3])
C0005767 (UMLS CUI [1,4])
C0012854 (UMLS CUI [1,5])
C0185115 (UMLS CUI [1,6])