ID
45363
Descripción
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
Palabras clave
Versiones (1)
- 4/11/22 4/11/22 - Chiara Middel
Titular de derechos de autor
Fuki M. Hisama, MD, University of Washington, Seattle, WA, USA
Subido en
4 de noviembre de 2022
DOI
Para solicitar uno, por favor iniciar sesión.
Licencia
Creative Commons BY 4.0
Comentarios del modelo :
Puede comentar sobre el modelo de datos aquí. A través de las burbujas de diálogo en los grupos de elementos y elementos, puede agregar comentarios específicos.
Comentarios de grupo de elementos para :
Comentarios del elemento para :
Para descargar modelos de datos, debe haber iniciado sesión. Por favor iniciar sesión o Registrate gratis.
dbGaP phs000541 Next Generation Mendelian Genetics: Muscle Hypertrophy
Eligibility Criteria
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])