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)
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Neuromuscular disorders in Anatolia – A personal review
2019, Neuromuscular DisordersCitation Excerpt :This observation (along with genetic data) led to genetic counseling and prenatal diagnosis. This was followed by identifying cases with milder symptoms [8]. These patients had a limb-girdle distribution with relatively late onset.
Extracellular matrix-driven congenital muscular dystrophies
2018, Matrix BiologyCitation Excerpt :Some patients start to develop clinical weakness in the second decade of life while others may present in adulthood, typically with a limb-girdle pattern of weakness along with elbow contractures. Occasionally, patients may be initially diagnosed with a peripheral neuropathy [15], limb-girdle muscular dystrophy, or Emery-Dreifuss type muscular dystrophy because of conspicuous joint contractures, while others may be erroneously thought to have central demyelination due to MRI white matter changes [10, 16] before the myopathic phenotype is noticed (see extramuscular features section below). Similar to intermediate COL6-RD patients (see COL6-RD section), nocturnal respiratory insufficiency in independently ambulant patients can occur in patients with partial laminin-211 deficiency and thus should be vigilantly monitored and supportive treatment with non-invasive ventilation initiated before acute respiratory failure [12].
Laminin-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 DisordersLimb 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].