Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy.
It has recently been shown that merosin, a laminin variant, is deficient in a proportion of patients with congenital muscular dystrophy. Merosin is a heterotrimer composed of the alpha 2, beta 1, and gamma 1 subunits, and further studies have shown that it is the alpha 2 subunit that is deficient in these patients. Because the alpha 2 subunit is also expressed in S-merosin, found in Schwann cells, we have investigated whether peripheral nerve function is also affected in these patients. Motor nerve conduction velocities and sensory distal latencies were examined in 25 cases of congenital muscular dystrophy and the results correlated with the merosin expression in their muscle biopsies. All but two of the 10 merosin-deficient cases had reduced motor nerve conduction, whereas all the merosin-positive cases had normal results. Analysis of the biopsies of these two cases showed that they produced merosin in reduced amounts, in contrast to all other merosin-deficient patients that produced no or only traces of merosin. Sensory nerve studies showed no difference between the two groups. These results indicate that a peripheral demyelinating neuropathy is a feature of merosin-deficient congenital muscular dystrophy. The fact that the alpha 2 subunits is also expressed in Schwann cells supports the idea that the alpha 2 gene, located on chromosome 6, is the candidate gene for merosin-deficient congenital muscular dystrophy.
Shorer
Z
Z
Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
Philpot
J
J
Muntoni
F
F
Sewry
C
C
Dubowitz
V
V
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007797:Laminin / Q000172:deficiency*; D009136:Muscular Dystrophies / Q000151:congenital / Q000503:physiopathology*; D009431:Neural Conduction / Q000502:physiology; D010523:Peripheral Nervous System Diseases / Q000503:physiopathology*
D007797:Laminin