Laminin α2 muscular dystrophy

Pegoraro, Elena; Marks, Harold G.; García, Carlos; Crawford, Thomas O.; Mancías, Pedro; Connolly, Anne M.; Fanin, Marina; Martinello, Flávia; Trevisan, Carlo P.; Angelini, C.; Stella, Alessandro; Scavina, Mena; Munk, Richard; Servidei, Serenella; Bönnemann, CG; Bertorini, Tulio E.; Acsádi, Gyula; Thompson, Charlotte; Gagnon, Deborah M.; Hoganson, George; Carver, Virginia; Ra, Zimmerman; Hoffman, Eric P.

doi:10.1212/wnl.51.1.101

Cited by 116 publications

(97 citation statements)

References 11 publications

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“…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).…”

Section: Discussionmentioning

confidence: 99%

“…It has been observed that the severe phenotype is caused by mutations that drastically affect the expression of LAMA2 or the structure of the protein (Nissinen et al 1996;Pegoraro et al 1996;Guichenney et al 1998;Pegoraro et al 1998). On the other hand, a wide range of milder phenotypes in CMD patients are caused by partial merosin deficiency, which can be produced by an in-frame deletion in LAMA2 (Allamand et al 1997), or mutations that permit production of a partially functional protein or a reduced amount of normal protein (Naom et al 1998(Naom et al , 2000.…”

Section: Introductionmentioning

confidence: 99%

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

Coral‐Vázquez¹,

Rosas-Vargas²,

Meza-Espinosa³

et al. 2003

J Hum Genet

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Coral‐Vázquez¹,

Rosas-Vargas²,

Meza-Espinosa³

et al. 2003

J Hum Genet

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“…lAMA 2 mutations are markedly variable spanning all protein domains [92][93][94] and, in general, the molecular diagnosis is not considered a priority in children with MDC1A, due to the homogeneous phenotype, the easy immunohistochemical analysis of laminin alpha-2 chain in muscle 1,2,60 and skin 95 , and the characteristic white matter abnormalities on neuroimaging. however, siala et al 96,97 have emphasized the utility of mrNA analysis in cases of MDC 1A to understand the mechanism of the mutation and the genotype-phenotype correlation.…”

Section: Merosin-deficient Congenital Muscular Dystrophy: Mdc1amentioning

confidence: 99%

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

Reed

2009

Arq. Neuro-Psiquiatr.

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-The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. From 1994, a great development in the knowledge of the molecular basis has occurred and the classification of CMDs has to be continuously up dated. In the last number of this journal, we presented the main clinical and diagnostic data concerning the different subtypes of CMD. In this second part of the review, we analyse the main reports from the literature concerning the pathogenesis and the therapeutic perspectives of the most common subtypes of CMD: MDC1A with merosin deficiency, collagen VI related CMDs (Ullrich and Bethlem), CMDs with abnormal glycosylation of alpha-dystroglycan (Fukuyama CMD, Muscleeye-brain disease, Walker Warburg syndrome, MDC1C, MDC1D), and rigid spine syndrome, another much rare subtype of CMDs not related with the dystrophin/glycoproteins/extracellular matrix complex.Key WorDs: congenital muscular dystrophy, MDC1A, collagen VI related disorders, glycosylation of alphadystroglycan, Fukuyama DMC, muscle-eye-brain (MeB) disease, Walker-Warburg syndrome, rigid spine syndrome. distrofia muscular congênita. parte ii: revisão da patogênese e perspectivas terapêuticas resumo -As distrofias musculares congênitas (DMCs) são miopatias hereditárias geralmente, porém não exclusivamente, de herança autossômica recessiva, que apresentam grande heterogeneidade genética e clínica. são caracterizadas por hipotonia muscular congênita, atraso do desenvolvimento motor e fraqueza muscular de início precoce associada a padrão distrófico na biópsia muscular. o quadro clínico, de gravidade variável, pode também incluir anormalidades oculares e do sistema nervoso central. A partir de 1994, os conhecimentos sobre genética e biologia molecular das DMCs progrediram rapidamente, sendo a classificação continuamente atualizada. os aspectos clínicos e diagnósticos dos principais subtipos de DMC foram apresentados no número anterior deste periódico, como primeira parte desta revisão. Nesta segunda parte apresentaremos os principais mecanismos patogênicos e as perspectivas terapêuticas dos subtipos mais comuns de DMC: DMC tipo 1A com deficiência de merosina, DMCs relacionadas com alterações do colágeno VI (Ullrich e Bethlem), e DMCs com anormalidades de glicosilação da alfa-distroglicana (DMC Fukuyama, DMC "Muscle-eye-brain" ou MeB, síndrome de Walker Warburg, DMC tipo 1C, DMC tipo 1D). A DMC com espinha rígida, mais rara e não relacionada com alterações do complexo distrofina-glicoproteínas associadas-matriz extracelular também será abordada quanto aos mesmos aspectos patogênicos e terapêuticos.PAlAVrAs-ChAVes: distrofia muscular congênita, merosina, colágeno VI, glicosila...

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“…2,5,10 Analysis of the laminin a2 chain cDNA or the LAMA2 gene itself showed that nucleotide substitutions, small deletions, or insertions induce complete merosin deficiency. Most of the mutations are localised in the N-terminal domain (exons 1 ± 31) and are predicted to produce truncated proteins.…”

Section: Mutationsmentioning

confidence: 99%

“…A 2 bp deletion, 2098delAC (703X), has been repeatedly found in several studies. 2,5,10 A nonsense mutation, C967X, has also been identified in several Italian families. Some larger deletions have been reported.…”

Section: Mutationsmentioning

confidence: 99%

Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for α2 chain of laminin)

2002

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Laminin α2 muscular dystrophy

Abstract: Our data suggest that the large majority of laminin alpha2-deficient patients show laminin alpha2 gene mutations.

Cited by 116 publications

References 11 publications

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

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

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for α2 chain of laminin)

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