Research paperLate onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency
References (16)
- et al.
Expression of laminin subunits in congenital muscular dystrophy
Neuromuscular Disord.
(1995) - et al.
Diagnosis of merosin (laminin alpha-2) deficient congenital muscular dystrophy by skin biopsy
Lancet
(1996) Muscle disorders of childhood
(1995)- et al.
Congenital muscular dystrophy with merosin deficiency
C R Acad Sci Paris Life Sci
(1994) - et al.
Localisation of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
Hum. Mol. Genet.
(1994) - et al.
Readjusting the localisation of merosin (laminin α2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2
C R Acad Sci Paris Life Sci
(1995) - et al.
Expression of laminin isoforms in mouse myogenic cells in vitro and in vivo
J. Cell Sci.
(1995)
Cited by (64)
Improvement of motor conduction velocity in hereditary neuropathy of LAMA2-CMD dy<sup>2J</sup>/dy<sup>2J</sup> mouse model by glatiramer acetate
2019, Clinical NeurophysiologyCitation Excerpt :Laminin-deficient congenital muscular dystrophy (LAMA2-CMD/MDC1A) is inherited autosomal recessively by LAMA2 gene mutations (chromosome 6q22.33), encoding the laminin-α2 subunit of muscle basement membrane protein laminin-211 (merosin) (Collins and Bönnemann, 2010; Helbling-Leclerc et al., 1995), with reduction or complete deficiency of laminin-α2 causing congenital muscular dystrophy demyelinating peripheral neuropathy, and brain white matter changes (Shorer et al., 1995; Tan et al., 1997).
Neuromuscular disorders in Anatolia – A personal review
2019, Neuromuscular DisordersCitation Excerpt :Starting from late 1980s and early 1990s we were successful to contribute to the observation, description, definition, and genetic properties of several new clinical entities (genetic), mostly by international collaborations. Just to name a few: merosin deficient CMD [7], partial merosin deficiency [8], rigid spine syndrome [9], muscle eye brain disease [10], LGMD2K [11], LGMD2P [12], LGMD2Q [13], the POMT1 gene related CMD [14], Schwartz–Jampel syndrome [15], Marinesco–Sjögen syndrome [16], Giant axonal neuropathy [17], Charlevoix–Saguenay ataxia [18], neuropathy with GDAP1 mutations [19], muscle coenzyme Q10 (CoQ10) deficiency [20], spinal muscular atrophy and myoclonic epilepsy [21], CMD with mitochondrial changes [22], and finally inherited CD59 deficiency [23] among others. Now, I would like to mention and discuss some of these entities just briefly and their historical aspects.
Extracellular matrix-driven congenital muscular dystrophies
2018, Matrix BiologyLaminin-deficient muscular dystrophy: Molecular pathogenesis and structural repair strategies
2018, Matrix BiologyCitation Excerpt :The peripheral nerve defect alters nerve conduction [16,17] and there is a report that a LAMA2 mutation causing a limb-girdle muscular dystrophy with involvement of the peripheral nerve [18]. In the brain, LAMA2 MD patients often show changes in white matter density detected by T2-weighted magnetic resonance, deduced to reflect increased water density rather than changes in myelination [19–22]. Additional brain abnormalities are those of cerebellar hypoplasia and, rarely, occipital lobe neuronal migration defects [8].
Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations
2017, Neuromuscular DisordersCitation Excerpt :Recessive mutations in LAMA2, encoding the extracellular matrix protein laminin α2, a subunit of laminin 2 (merosin, laminin 211), the most abundant laminin isoform in the basement membrane of differentiated skeletal muscle fibres, typically cause a severe congenital muscular dystrophy with complete absence of laminin α2 on immunoanalysis (MDC1A) [1]. Less commonly LAMA2 mutations may present with a milder phenotype sometimes with limb girdle muscular dystrophy (LGMD) [2,3], although this is speculated to be an underdiagnosed cause of LGMD [4]. This milder presentation is associated with reduced rather than absent laminin α2 expression levels on muscle biopsy [5].
Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy
2014, Neuromuscular DisordersCitation Excerpt :Partial merosin deficiency caused by LAMA2 mutations and manifesting as limb girdle muscular dystrophy was reported earlier by our group [9] and is now more widely recognised, but is much less common than typical MDC1A. This milder motor phenotype is characterised by a later age of onset, ranging from late childhood to adulthood and is also associated with central and peripheral nervous system involvement [6,10–14]. While a complete absence of merosin is typically associated with a severe CMD clinical course, and residual merosin expression with a milder disease course [15], there are exceptions, including a report on a limb girdle muscular dystrophy phenotype despite homozygous loss-of-function LAMA2 mutations in exon 56 which caused the loss of the G domain of the protein resulted from a premature stop codon and complete absence of laminin α2 expression on muscle biopsy [16].