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Congenital absence of gluteal muscles

MedGen UID:: 419288
•Concept ID:: C2930932
•: Congenital Abnormality; Finding

HPO:	HP:0009013

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital absence of gluteal muscles

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal skeletal muscle morphology
      - Abnormal morphology of the pelvis musculature
        Aplasia/Hypoplasia of the musculature of the pelvis
        Congenital absence of gluteal muscles

Professional guidelines

PubMed

Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests.

Valberg SJ, Henry ML, Herrick KL, Velez-Irizarry D, Finno CJ, Petersen JL
Equine Vet J 2023 Mar;55(2):230-238. Epub 2022 Apr 1 doi: 10.1111/evj.13574. PMID: 35288976 Free PMC Article

Recent clinical studies

Etiology

Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests.

Valberg SJ, Henry ML, Herrick KL, Velez-Irizarry D, Finno CJ, Petersen JL
Equine Vet J 2023 Mar;55(2):230-238. Epub 2022 Apr 1 doi: 10.1111/evj.13574. PMID: 35288976 Free PMC Article

Diagnosis

Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests.

Valberg SJ, Henry ML, Herrick KL, Velez-Irizarry D, Finno CJ, Petersen JL
Equine Vet J 2023 Mar;55(2):230-238. Epub 2022 Apr 1 doi: 10.1111/evj.13574. PMID: 35288976 Free PMC Article

Congenital absence of gluteal muscles, optic nerve hypoplasia, and central nervous system hamartomas.

Edgar EM, Carlson HL, Egan RA, Riccelli LP, Cupler EJ
Clin Dysmorphol 2012 Apr;21(2):106-108. doi: 10.1097/MCD.0b013e32834e7fb9. PMID: 22146147

Prognosis

Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests.

Valberg SJ, Henry ML, Herrick KL, Velez-Irizarry D, Finno CJ, Petersen JL
Equine Vet J 2023 Mar;55(2):230-238. Epub 2022 Apr 1 doi: 10.1111/evj.13574. PMID: 35288976 Free PMC Article

Clinical prediction guides

Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests.

Valberg SJ, Henry ML, Herrick KL, Velez-Irizarry D, Finno CJ, Petersen JL
Equine Vet J 2023 Mar;55(2):230-238. Epub 2022 Apr 1 doi: 10.1111/evj.13574. PMID: 35288976 Free PMC Article

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Reviews

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