Human genes for congenital merosin-deficient muscular dystrophy 1A
Congenital merosin-deficient muscular dystrophy 1A [DOID:0110636]
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
Synonyms: congenital merosin-deficient muscular dystrophy 1A, congenital merosindeficient muscular dystrophy 1A, DOID:0110636, CMD1A, congenital muscular dystrophy due to laminin alpha2 deficiency ...