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centronuclear myopathy

MIM.160150 19p13.2 and 12q21

Wednesday 1 March 2006

centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting.

The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties.

Ptosis and limitation of eye movements occur frequently.

The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.

Types

- autosomal recessivecentronuclear myopathy
- autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting.
- X-linked centronuclear myopathy (myotubular myopathy)

Etiology

- heterozygosity for mutation in the myogenic factor-6 gene (MYF6) (MIM.159991)
- mutations in the dynamin-2 gene (DNM2) (MIM.602378)

References

- Bitoun M, Maugenre S, Jeannet PY, Lacene E, Ferrer X, Laforet P, Martin JJ, Laporte J, Lochmuller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet. 2005 Nov;37(11):1207-9. PMID: 16227997