Key result
Muscle biopsies from four patients with mild myopathy revealed inclusions constituted by an excess of SERCA1 and calsequestrin proteins, representing a new type of surplus protein myopathy.
Case Report (n=4)
Describes a novel surplus protein myopathy characterized by the accumulation of SERCA1 and calsequestrin in muscle tissue.
May suggest a novel myopathy in mild cases; leaves open prevalence, genetics, and diagnostic criteria.
We describe four patients, from four different families, affected by a mild myopathy or asymptomatic elevated serum creatine kinase levels, in whom toluidine blue-stained semithin sections of muscle specimens revealed inclusions of different size and shape. The inclusions did not stain by routine histochemical studies. The sarcoplasmic or endoplasmic reticulum calcium 1 (SERCA1) ATPase and/or calsequestrin reactivity of inclusions, by immunohistochemistry, and the SERCA1- and calsequestrin-increased expression, by immunoblot, suggested that inclusions were constituted by an excess of proteins normally present in the terminal cisternae of sarcoplasmic reticulum. Our cases, both sporadic and familial, represent a new type of surplus protein myopathy.
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Giuliano Tomelleri (2006) conducted a case report in Mild myopathy or asymptomatic elevated serum creatine kinase levels (n=4). Muscle biopsy with immunohistochemistry and immunoblot was evaluated on Identification of inclusions constituted by an excess of SERCA1 and/or calsequestrin proteins. Muscle biopsies from four patients with mild myopathy revealed inclusions constituted by an excess of SERCA1 and calsequestrin proteins, representing a new type of surplus protein myopathy.
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