Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.

Neuromuscular disorders : NMD - 1 Oct 2005

Vainzof Mariz, Richard Pascale, Herrmann Ralf, Jimenez-Mallebrera Cecilia, Talim Beril, Yamamoto Lydia U, Ledeuil Céline, Mein Rachael, Abbs Stephen, Brockington Martin, Romero Norma B, Zatz Mayana, Topaloglu Haluk, Voit Thomas, Sewry Caroline, Muntoni Francesco, Guicheney Pascale, Tomé Fernando M S

Abstract excerpt

The congenital muscular dystrophies (CMD) are clinically and genetically heterogeneous. The merosin (laminin alpha2 chain) deficient form (MDC1A), is characterized clinically by neonatal hypotonia, delayed motor milestones and associated contractures. It is caused by deficiency in the basal lamina of muscle fibers of the alpha2 chain of laminins 2 and 4 (LAMA2 gene at 6q22-23). Laminin alpha2 chain is also...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amniotic Fluid
Share to Genetic Carrier Screening

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Counseling

Share to Infant, Newborn

Share to Laminin

Share to Muscular Dystrophies

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 16084089
DOI: 10.1016/j.nmd.2005.04.009

Genes

LAMA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.PMID 16084089Read ↗

Protein and DNA analysis for the prenatal diagnosis of alpha2-laminin-deficient congenital muscular dystrophy.Semantic proximity Read ↗

Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.Semantic proximity Read ↗

Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.Semantic proximity Read ↗

Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia.Semantic proximity Read ↗

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

Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).Semantic proximity Read ↗

Congenital muscular dystrophy with primary laminin α2 (merosin) deficiency presenting as inflammatory myopathySemantic proximity Read ↗

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.Semantic proximity Read ↗

Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry.Semantic proximity Read ↗

Molecular prenatal diagnosis of muscular dystrophies in Tunisia and postnatal follow-up role.Semantic proximity Read ↗

Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. Online.Semantic proximity Read ↗

The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.