multiminicore disease

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

Etiology

homozygous RYR1 mutations in moderate form of MmD with hand involvement
mutations of the selenoprotein N gene (SEPN1)(#12192640#) in 1p36 (RSMD1) (#12192640#)