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

Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin α-2 gene

“…In recent years, there have been several reports showing variability in the clinical phenotype associated with laminin α2 deficiency. In these cases, patients less severely affected presented a clinical course characterized by late-onset muscle weakness, achievement of ambulation, and a CK level below 1000 U/l, with and without neuronal migration defects in MRI (Herrmann et al 1996;Mora et al 1996;Allamand et al 1997;Naom et al 1997;Morandi et al 1999). Severe phenotypes can be induced by mutations that completely avoid expression of the protein (HelblingLeclerc et al 1995;Nissinen et al 1996;Pegoraro et al 1996;Guicheney et al 1998;Pegoraro et al 1998); milder CMD phenotypes have been observed in patients with mutations that induce production of a reduced amount of normal protein or expression of a partially functional protein (Allamand et al 1997;Naom et al 2000).…”

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

“…All induced a premature truncation of the protein, either in the short arm or in the globular C-terminal domain. A 2 bp deletion in exon 13 …”

The Congenital Muscular Dystrophies: Recent Advances and Molecular Insights

“…The peripheral nerve may be affected in laminin α2 deficiency [13][14][15][16][17]. Initial reports emphasized a motor neuropathy, but sensory fiber involvement is well documented [17].…”