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multiminicore disease

 
Multiminicore disease (MmD) is an autosomal recessive congenital myopathy characterized by the presence of multiple, short core lesions (known as "minicores") in most muscle fibers. MmD is a clinically heterogeneous condition, in which four subgroups have been distinguished.

Etiology

-  Homozygous RYR1 mutations in the moderate form of MmD with hand involvement

-  mutations in the selenoprotein N gene (SEPN1) at 1p36 (axial myopathy with scoliosis and respiratory failure)


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