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Myopathy with storage of glycoproteins and Glycosaminoglycans

MedGen UID:
371846
•Concept ID:
C1834532
•
Disease or Syndrome
Synonym: Myopathy with Storage of Glycoproteins and Glycosaminoglycans
 
Monarch Initiative: MONDO:0008052
OMIM®: 160570

Clinical features

From HPO
Myopathy
MedGen UID:
10135
•Concept ID:
C0026848
•
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
See: Feature record | Search on this feature
Scapulohumeral muscular dystrophy
MedGen UID:
98373
•Concept ID:
C0410192
•
Disease or Syndrome
See: Feature record | Search on this feature
Elevated circulating creatine kinase concentration
MedGen UID:
69128
•Concept ID:
C0241005
•
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
See: Feature record | Search on this feature
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Recent clinical studies

Diagnosis

Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.
Stucki U, Spycher MA, Eich G, Rossi A, Sacher P, Steinmann B, Superti-Furga A
Am J Med Genet 2001 Apr 22;100(2):122-9. doi: 10.1002/1096-8628(20010422)100:2<122::aid-ajmg1236>3.0.co;2-0. PMID: 11298373

Clinical prediction guides

Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.
Stucki U, Spycher MA, Eich G, Rossi A, Sacher P, Steinmann B, Superti-Furga A
Am J Med Genet 2001 Apr 22;100(2):122-9. doi: 10.1002/1096-8628(20010422)100:2<122::aid-ajmg1236>3.0.co;2-0. PMID: 11298373

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