Multicore myopathy

Classification according to ICD-10
G71.2	Congenital Myopathies Minicore Disease Multicore Disease
ICD-10 online (WHO version 2019)

As multicore myopathy or multiminicore myopathy is a rare muscle disease from the group of congenital myopathies referred, which was first described in 1971.

clinic

The clinical picture is heterogeneous, but in most patients weakness and stiffness of the trunk muscles are the most prominent. A distinction must be made between cases in which there is paralysis of the eye muscles and cases that become conspicuous with arthrogryposis even before birth . Others have a clinical picture like patients with central core myopathy .

Histology and genetics

Multicore myopathy with disorders of the intermyofibrillary oxidative network in the NADH staining.

Histologically , in the muscle biopsy, especially in the enzyme histochemical staining, the NADH disorders of the intermyofibrillary oxidative network with multiple small bright spots (“cores”) are characteristic.

The genetics of multicore myopathy is not uniform, the disease but in contrast to the central core disease in the majority of cases autosomal - recessive inherited. Mutations of the SEPN1 gene coding for selenoprotein N , but also of the RYR1 gene involved in central core myopathy, which codes for a ryanodine receptor, have been described .

Individual evidence

1. ↑ Engel et al .: Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers. A new congenital non-progressive myopathy. Mayo Clin Proc. 1971; 46: 666-681. PMID 5115748
2. ↑ Jungbluth: Multi-minicore disease. Orphanet Journal of Rare Diseases 2007, 2:25 PMID 17631035 (review article)
3. ↑ Multicore myopathy with external ophthalmoplegia.  In: Online Mendelian Inheritance in Man . (English).
4. ↑ Prenatal multicore myopathy with arthrogryposis.  In: Online Mendelian Inheritance in Man . (English).
5. ↑ Ferreiro et al .: Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. At the J Hum Genet. 2002; 71: 739-749. PMID 12192640
6. ↑ Monnier et al .: A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. Hum Mol Genet 2003; 12: 1171-1178 PMID 12719381

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