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Sarcoplasmic bodies

MedGen UID:
569374
Concept ID:
C0333780
Cell Component
SNOMED CT: Sarcoplasmic bodies (2019006)
 
HPO: HP:0034722

Definition

Rounded or oval structures that appeared brown on hematoxylin and eosin and red on the modified Gomori trichrome stain. [from HPO]

Term Hierarchy

Conditions with this feature

Myopathy, sarcoplasmic body
MedGen UID:
1840998
Concept ID:
C5830362
Disease or Syndrome
Sarcoplasmic body myopathy (MYOSB), also known as myoglobinopathy, is an autosomal dominant disorder characterized by adult-onset muscle weakness affecting the proximal and distal muscles. Affected individuals usually present with proximal and axial muscle weakness leading to gait disturbances, although some present with hand muscle weakness and atrophy. The disorder is slowly progressive, and patients may lose ambulation after a long disease course. Some individuals develop respiratory or cardiac symptoms, often needing nocturnal ventilation. Other more variable features may include neck muscle weakness and dysphagia; facial muscle weakness is uncommon (Olive et al., 2019; Hama et al., 2022).

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