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 (limb-girdle), type C1 (MDDGC1), 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]
Limb-girdle muscular dystrophy primarily affects the proximal muscles, resulting in difficulty walking. The age at onset varies, but most patients show onset in childhood, and the disorder is progressive. Involvement is first evident in either the pelvic or, less frequently, the shoulder girdle, often with asymmetry of wasting when the upper limbs are first involved; spread from the lower to the upper limbs or vice versa occurs within 20 years (Chung and Morton, 1959; pubmed:13810212). [from MIM:253600; 2016.03.11]
[MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1](https://omim.org/entry/609308)
[PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1](https://omim.org/entry/607423)
One to one: 1 human to 1 Drosophila.
