| H01958 | |
| H number | H01958 |
| Name | Merosin-deficient congenital muscular dystrophy |
| Description | 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 |
| Network | - |
| Gene | LAMA2 [HSA:3908] [KO:K05637] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C70.6 ICD-10: G71.2 MeSH: C537384 OMIM: 607855 |
| Reference | PMID:10543397 AUTHORS D'Alessandro M, Naom I, Ferlini A, Sewry C, Dubowitz V, Muntoni F TITLE Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? JOURNAL Hum Genet 105:308-13 (1999) DOI:10.1007/s004399900093 PMID:16216942 AUTHORS 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. JOURNAL Arch Neurol 62:1582-6 (2005) DOI:10.1001/archneur.62.10.1582 |