Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy

A. Di Muzio, M. V. De Angelis, P. Di Fulvio, A. Ratti, A. Pizzuti, L. Stuppia, D. Gambi, A. Uncini

Research output: Contribution to journalArticlepeer-review

Abstract

A 20-year-old man with mild myopathy, external ophthalmoparesis, epilepsy, and diffuse white matter hyperintensity in the brain on magnetic resonance imaging had partial merosin deficiency in muscle and absent merosin in the endoneurium. Motor and sensory nerve conduction velocities were slow. Nerve biopsy showed reduction of large myelinated fibers, short internodes, enlarged nodes, excessive variability of myelin thickness, tomacula, and uncompacted myelin, but no evidence of segmental demyelination, naked axons, or onion bulbs. Thus, in congenital muscular dystrophy, merosin expression may be dissociated in different tissues, and the neuropathy is sensory-motor and due to abnormal myelinogenesis.

Original languageEnglish
Pages (from-to)500-506
Number of pages7
JournalMuscle and Nerve
Volume27
Issue number4
DOIs
Publication statusPublished - Apr 1 2003

Keywords

  • Dysmyelinating sensory-motor neuropathy
  • LAMA2 gene
  • Merosin-deficient congenital muscular dystrophy
  • Nerve morphometry
  • Sural nerve biopsy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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