Discover Community Create You

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

Congenital muscular dystrophy with primary laminin α2 (merosin) deficiency presenting as inflammatory myopathy

1 Nov 1996

Abstract excerpt

Ten laminin alpha2-deficient patients were identified by both immunofluorescence and immunoblotting (30% of congenital muscular dystrophy patients tested). Three of the laminin alpha2-deficient patients were carrying a diagnosis of infantile polymyositis prior to immunostaining studies. The clinical features in the 10 merosin-deficient patients were homogeneous, with severe floppiness at birth, delay in...

Read the complete abstract on PubMed

Topics

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

Share to Adipose Tissue and Metabolism
Share to Exercise and Physiological Responses
Share to Muscle Physiology and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8957020
DOI: 10.1002/ana.410400515

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Congenital muscular dystrophy with primary laminin α2 (merosin) deficiency presenting as inflammatory myopathyPMID 8957020Read ↗

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

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

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

Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophySemantic proximity Read ↗

Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.Semantic proximity Read ↗

Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene.Semantic proximity Read ↗

A novel laminin alpha2 isoform in severe laminin alpha2 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 ↗

Clinical correlations in 16 patients with total or partial laminin alpha2 deficiency characterized using antibodies against 2 fragments of the protein.Semantic proximity Read ↗

Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene.Semantic proximity Read ↗

Laminin-α2 Chain-Deficient Congenital Muscular Dystrophy: Pathophysiology and Development of Treatment.Semantic proximity Read ↗

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