Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities.
We found partial merosin deficiency in a boy presenting at 12 yr with marked limb weakness and a waddling gait. Magnetic resonance imaging (MRI) showed the characteristic white matter abnormalities of merosin-negative congenital muscular dystrophy. There were also peripheral demyelinating polyneuropathy and evoked potential abnormalities. Unlike classic merosin-negative congenital muscular dystrophy, however, our patient was less hypotonic and weak and was able to achieve independent walking. Both by immunohistochemistry and Western blot merosin was shown to be moderately reduced. By immunostaining the alpha 1 laminin chain was overexpressed and beta 1 laminin chain was reduced. A spectrum of clinical phenotypes is likely to become evident in merosin-deficient patients in relation to the discovery of a range of molecular defects in, and variable expression of, this protein.
Mora
M
M
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico C. Besta, Milano, Italy.
Moroni
I
I
Uziel
G
G
di Blasi
C
C
Barresi
R
R
Farina
L
L
Morandi
L
L
D002493:Central Nervous System Diseases / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*; D002648:Child; D003598:Cytoskeletal Proteins / Q000032:analysis; D016189:Dystrophin / Q000032:analysis; D006801:Humans; D007150:Immunohistochemistry; D007797:Laminin / Q000032:analysis / Q000172:deficiency* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008562:Membrane Glycoproteins / Q000032:analysis; D018482:Muscle, Skeletal / Q000737:chemistry / Q000294:innervation / Q000378:metabolism; D009431:Neural Conduction; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*; D010641:Phenotype; D049031:Sarcoglycans
D003598:Cytoskeletal Proteins; D016189:Dystrophin; D007797:Laminin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans