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Dysmyelinating sensory‐motor neuropathy in merosin‐deficient congenital muscular dystrophy
Author(s) -
Di Muzio A.,
De Angelis M.V.,
Di Fulvio P.,
Ratti A.,
Pizzuti A.,
Stuppia L.,
Gambi D.,
Uncini A.
Publication year - 2003
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.10326
Subject(s) - ophthalmoparesis , endoneurium , medicine , fasciculation , congenital muscular dystrophy , anatomy , pathology , muscular dystrophy , myopathy , muscle biopsy , multifocal motor neuropathy , biopsy , ptosis , electroencephalography , ophthalmology , mismatch negativity , psychiatry , sciatic nerve
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. Muscle Nerve 27:500–506, 2003