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myotubular myopathy (centronuclear myopathy)
Pathology:
- the most prominent histopathologic features include:
a) high frequency of centrally located nuclei in muscle fibers not secondary to regeneration
b) radial arrangement of sarcoplasmic strands around the central nuclei
c) predominance & hypotrophy of type-1 muscle fibers
Genetics:
- autosomal form associated with defects in DNM2
- autosomal form associated with defects in MYF6
- X-linked form associated with defects in MTM1 (type-1)
- autosomal recessive for associated with defects in BIN1 Clinical maniifestations:
- congenital muscle disorder
- progressive muscular weakness & wasting involving mainly limb girdle, trunk, & neck muscles
- may also affect distal muscles
- weakness may be present during childhood or adolescence or may not become evident until the third decade of life
- ptosis is a frequent clinical feature
- may have elongated face, high-arched palate, scoliosis [3]
General
genetic disease of muscle (inherited myopathy)
Database Correlations
OMIM correlations
References
- OMIM :accession 160150
- OMIM :accession 310400
- Medical Knowledge Self Assessment Program (MKSAP) 15,
American College of Physicians, Philadelphia 2009