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Article

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

Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Sept 2004

Yamamoto Lydia U, Gollop Thomas R, Naccache Nadyr F, Pavanello Rita C M, Zanoteli Edmar, Zatz Mayana, Vainzof Mariz

Abstract excerpt

Congenital muscular dystrophies (CMD) are characterized by neonatal hypotonia and/or artrogriposis associated with a dystrophic muscle biopsy. The CMD1A form is caused by a deficiency of the alpha2 chain of laminin 2 (LAMA2 gene at 6q2), a protein present in the basal lamina of muscle fibers, in Schwann cells, epidermis, and in fetal trophoblastic tissue. This allows its study for prenatal diagnosis in the...

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Source

Identifiers

PMID: 15322429
DOI: 10.1097/01.pdm.0000124912.24194.d0

Genes

LAMA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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