ID
45363
Descrição
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
Palavras-chave
Versões (1)
- 04/11/2022 04/11/2022 - Chiara Middel
Titular dos direitos
Fuki M. Hisama, MD, University of Washington, Seattle, WA, USA
Transferido a
4 de novembro de 2022
DOI
Para um pedido faça login.
Licença
Creative Commons BY 4.0
Comentários do modelo :
Aqui pode comentar o modelo. Pode comentá-lo especificamente através dos balões de texto nos grupos de itens e itens.
Comentários do grupo de itens para :
Comentários do item para :
Para descarregar formulários, precisa de ter uma sessão iniciada. Por favor faça login ou registe-se gratuitamente.
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])