In humans, multiple genes have been implicated in muscular dystrophy; in addition, in most cases, any specific gene is implicated in multiple forms of the disease. This report describes muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 (MDDGB1), which is one of several forms of the disease associated with the human gene POMT1. Information about fly models for this and related diseases can be found in the report 'muscular dystrophy, POMT1-related' (FBhh0000195).
[updated Mar. 2017 by FlyBase; FBrf0222196]
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies'. It is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. (Summary by Geis et al., 2013; pubmed:24052401 and Riemersma et al., 2015; pubmed:25934851). [from MIM:616538; 2016.03.14]
Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C). [from MIM:613155; 2016.03.14]
[MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1; MDDGB1](https://omim.org/entry/613155)
[PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1](https://omim.org/entry/607423)
One to one: 1 human to 1 Drosophila.
