Merosin-deficient congenital muscular dystrophy (MDC1A) is an autosomal recessive neuromuscular disorder caused by partial or total absence of laminin-2 (merosin) in the skeletal muscle. Clinical manifestations include severe muscle weakness, hypotonia at birth, and high creatine kinase (CK) levels.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C70 Muscular dystrophy
H01958 Merosin-deficient congenital muscular dystrophy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H01958 Merosin-deficient congenital muscular dystrophy
Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M
Title
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
