loading...| Preferred Name |
Muscular dystrophy congenital, merosin negative |
| Synonyms |
Merosin-negative congenital muscular dystrophy |
| ID |
http://purl.bioontology.org/ontology/MESH/C537384 |
| altLabel |
Merosin-negative congenital muscular dystrophy Muscular dystrophy, congenital, merosin-deficient 1A Merosin-deficient congenital muscular dystrophy Muscular Dystrophy, Congenital Merosin-Deficient, 1A Muscular Dystrophy, Congenital Merosin-Deficient |
| cui |
C1263858 |
| HM |
D009136 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
57 |
| MMR |
20150818 |
| notation |
C537384 |
| prefLabel |
Muscular dystrophy congenital, merosin negative |
| SC |
3 |
| Scope Statement |
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 |
| TERMUI |
T742415 T742414 T742416 T802366 T827681 T742413 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |