Muscular dystrophy congenital, merosin negative

Merosin-negative congenital muscular dystrophy

http://purl.bioontology.org/ontology/MESH/C537384

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

C1263858

D009136

0

http://purl.bioontology.org/ontology/MESH/D009136

20100825

40

20150818

C537384

Muscular dystrophy congenital, merosin negative

3

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

T742415

T742414

T742416

T802366

T827681

T742413

ORD (2010)

OMIM (2013)

T047