MeSH Browser

MeSH Supplementary: Muscular dystrophy congenital, merosin negative
Unique ID: C537384
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537384
Entry Term(s): Merosin-deficient congenital muscular dystrophy; Merosin-negative congenital muscular dystrophy; Muscular Dystrophy, Congenital Merosin-Deficient; Muscular Dystrophy, Congenital Merosin-Deficient, 1A; Muscular dystrophy, congenital, merosin-deficient 1A
Registry Number: 0
Heading Mapped to: *Muscular Dystrophies
Frequency: 57
Note: A hereditary, autosomal recessive form of muscular dystrophy characterized by muscle weakness apparent at birth or in the first 6 months of life. Patients show HYPOTONIA, poor suck and cry, and delayed motor development; most can never walk independently. Most patients also have periventricular white matter abnormalities on NEUROIMAGING, but INTELLECTUAL DISABILITY and/or SEIZURES occur only rarely. Mutations in the LAMA2 gene have been identified. OMIM: 607855
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Muscular dystrophy congenital, merosin negative MeSH Supplementary Concept Data 2024