PMID: 8938702Oct 1, 1996Paper

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

Neuromuscular Disorders : NMD
M MoraL Morandi

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 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.

Citations

Mar 4, 1999·Neuromuscular Disorders : NMD·P BernasconiR Mantegazza
Mar 27, 2009·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Felipe A CourtM Laura Feltri
Dec 14, 2006·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Jerry R MendellPaul T Martin
Apr 14, 2000·Brain Pathology·A Bornemann, L V Anderson
Jul 14, 2010·Journal of Biomedicine & Biotechnology·Toshihiro Masaki, Kiichiro Matsumura
Jun 25, 2014·Neuromuscular Disorders : NMD·Sophelia H S ChanFrancesco Muntoni
Apr 17, 1998·Brain & Development·T Voit
Mar 9, 2010·Neuromuscular Disorders : NMD·Fatemeh GeranmayehFrancesco Muntoni
Aug 30, 2008·Brain & Development·Jong-Hee ChaeSung Hye Park
Jul 9, 2005·Clinica Chimica Acta; International Journal of Clinical Chemistry·Michela GuglieriGiacomo P Comi
Aug 29, 2009·Annals of Physical and Rehabilitation Medicine·E CetinA Thevenon
Mar 21, 2000·American Journal of Human Genetics·M BrockingtonF Muntoni
Oct 31, 2000·Microscopy Research and Technique·K A McGowan, M P Marinkovich
Feb 3, 2004·Muscle & Nerve·Susana Quijano-RoyBrigitte Estournet
Oct 23, 1997·The Journal of Biological Chemistry·F SaitoK Matsumura
Feb 22, 2018·Journal of Clinical Neuromuscular Disease·Sumit VermaPaul E Barkhaus
Feb 19, 2000·Microscopy Research and Technique·Y Miyagoe-SuzukiS Takeda
May 12, 2020·Frontiers in Molecular Neuroscience·Stefano Carlo Previtali, Alberto Andrea Zambon
Aug 12, 2006·Journal of Child Neurology·Yousif K R HabeebAllie Moosa

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