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Abnormality of the musculature of the limbs

MedGen UID:
870150
•Concept ID:
C4024582
•
Anatomical Abnormality
Synonyms: Abnormal limb muscles; Muscle issues in the arms and/or legs
 
HPO: HP:0009127

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the musculature of the limbs

Professional guidelines

PubMed

Predictive value of molar bite force on Class II functional appliance treatment outcomes.
Antonarakis GS, Kjellberg H, Kiliaridis S
Eur J Orthod 2012 Apr;34(2):244-9. Epub 2011 Mar 16 doi: 10.1093/ejo/cjq184. PMID: 21411476
Chronic exertional compartment syndrome: diagnosis and management.
Bong MR, Polatsch DB, Jazrawi LM, Rokito AS
Bull Hosp Jt Dis 2005;62(3-4):77-84. PMID: 16022217
Orthopedic management of neuromuscular disorders in children.
Birch JG
Semin Pediatr Neurol 1998 Jun;5(2):78-91. doi: 10.1016/s1071-9091(98)80024-7. PMID: 9661242

Recent clinical studies

Diagnosis

Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.
Alban JJ, Arango-Ramirez A, Olave-Rodriguez JA, Nastasi-Catanese JA, Rodriguez LX
Cold Spring Harb Mol Case Stud 2023 Dec;9(4) Epub 2024 Jan 10 doi: 10.1101/mcs.a006291. PMID: 37591693Free PMC Article
MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing.
Marttila M, Win W, Al-Ghamdi F, Abdel-Hamid HZ, Lacomis D, Beggs AH
Cold Spring Harb Mol Case Stud 2019 Aug;5(4) Epub 2019 Aug 1 doi: 10.1101/mcs.a004184. PMID: 31127036Free PMC Article

Prognosis

Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.
Alban JJ, Arango-Ramirez A, Olave-Rodriguez JA, Nastasi-Catanese JA, Rodriguez LX
Cold Spring Harb Mol Case Stud 2023 Dec;9(4) Epub 2024 Jan 10 doi: 10.1101/mcs.a006291. PMID: 37591693Free PMC Article
Progressive metastatic infantile fibrosarcoma with multiple acquired mutations.
Furtado LV, Kacar M, Mostafavi R, Shi Z, Ruiz R, Koo SC, Santiago T, Segers B, Krasin MJ, Abramson ZR, Shulkin B, Talbot LJ, Pappo A, Gartrell J
Cold Spring Harb Mol Case Stud 2023 Apr;9(2) Epub 2023 May 9 doi: 10.1101/mcs.a006277. PMID: 36997313Free PMC Article

Clinical prediction guides

Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.
Alban JJ, Arango-Ramirez A, Olave-Rodriguez JA, Nastasi-Catanese JA, Rodriguez LX
Cold Spring Harb Mol Case Stud 2023 Dec;9(4) Epub 2024 Jan 10 doi: 10.1101/mcs.a006291. PMID: 37591693Free PMC Article

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