KEGG   DISEASE: H01310Help
Entry
H01310                      Disease                                

Name
Multi-minicore disease (MmD);
Multicore myopathy with external ophthalmoplegia
Description
Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. It is morphologically defined by localized multiple areas of mitochondrial depletion and sarcomere disorganization, running to a limited extent along the longitudinal axis of muscle fiber ("minicores"). Marked clinical variability corresponds to genetic heterogeneity. Mutations in the SEPN1 gene have been identified in patients with the classic axial phenotype characterized by spinal rigidity, early scoliosis, and respiratory impairment, whereas mutations in the RYR1 gene have been associated with a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement.
Category
Musculoskeletal disease; Nervous system disease
BRITE hierarchy
Pathway
Calcium signaling pathway
Long-term depression
Gene
SEPN1 [HSA:57190]
RYR1 [HSA:6261] [KO:K04961]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
D'Amico A, Bertini E
  Title
Congenital myopathies.
  Journal
Curr Neurol Neurosci Rep 8:73-9 (2008)
Reference
  Authors
Jungbluth H
  Title
Multi-minicore Disease.
  Journal
Orphanet J Rare Dis 2:31 (2007)

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