Severe Congenital Muscular Dystrophy in a LAMA2 -Mutated Case

Clinical features and molecular data are described for a patient with undetectable expression of laminin α2 chain (merosin) and severe congenital muscular dystrophy. Molecular analysis of the LAMA2 gene revealed two previously un-described mutations. The patient achieved independent sitting at age 2...

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Bibliographic details
Volume: 37
Main Author: Di Blasi, Claudia, PhD
van Alfen, Nens, MD, PhD
Colleoni, Francesca, PhD
ter Laak, Henk, MSc, PhD
Mora, Marina, PhD
Format: Journal Article
Language: English
Zielgruppe: Academic
Place of publication: NEW YORK Elsevier Inc 2007
ELSEVIER SCIENCE INC
Elsevier
Elsevier B.V
published in: Pediatric neurology Vol. 37; no. 3; pp. 212 - 214
ORCID: 0000-0002-5765-2320
Data of publication: 2007
ISSN: 0887-8994
1873-5150
EISSN: 1873-5150
Discipline: Medicine
Subjects:
Online Access: available in Bonn?
Database: NARCIS
NARCIS: Datasets
Narcis: Open Access
NARCIS:Publications
Web of Knowledge
Science Citation Index Expanded
Web of Science
Web of Science - Science Citation Index Expanded - 2007
Pascal-Francis
Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
CrossRef
Academic OneFile (A&I only)
MEDLINE - Academic
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