Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities

Marina Mora, Isabella Moroni, Graziella Uziel, Claudia Di Blasi, Rita Barresi, Laura Farina, Lucia Morandi

Research output: Contribution to journalArticle

Abstract

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 α1 laminin chain was overexpressed and the β1 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.

Original languageEnglish
Pages (from-to)377-381
Number of pages5
JournalNeuromuscular Disorders
Volume6
Issue number5
DOIs
Publication statusPublished - Oct 1996

Fingerprint

Nervous System Malformations
Peripheral Nervous System
Laminin
Central Nervous System
Phenotype
Polyneuropathies
Gait
Evoked Potentials
Walking
Extremities
Western Blotting
Immunohistochemistry
Magnetic Resonance Imaging
Proteins
laminin 1
Merosin negative Muscular dystrophy congenital

Keywords

  • Congenital muscular dystrophy
  • Laminin 2
  • Merosin
  • MRI

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities. / Mora, Marina; Moroni, Isabella; Uziel, Graziella; Di Blasi, Claudia; Barresi, Rita; Farina, Laura; Morandi, Lucia.

In: Neuromuscular Disorders, Vol. 6, No. 5, 10.1996, p. 377-381.

Research output: Contribution to journalArticle

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AU - Farina, Laura

AU - Morandi, Lucia

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