This report describes muscular dystrophy, limb-girdle, type 2F (LGMD2F); LGMD2F exhibits autosomal recessive inheritance. The human gene implicated in this disease is SGCD, which encodes delta sarcoglycan. There is one fly ortholog, Scgδ, for which multiple genetic reagents, including classical amorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis, have been generated. SCGD is also associated with the disease dilated cardiomyopathy 1L (MIM:606685, FBhh0000162).
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 disease is one of several forms of muscular dystrophy associated with the human genes SGCD and SGCG. Additional information about fly models for this and related diseases can be found in the report 'muscular dystrophy, sarcoglycan-related D,G' (FBhh0000193).
Multiple UAS constructs of the human Hsap\SGCD gene have been introduced into flies, including wild-type SGCD and a gene carrying a mutational lesion; functional complementation using the human SGCD gene has not been tested. Variant(s) implicated in human disease tested (as transgenic human gene, SGCD): the S151A variant form has been introduced into flies; this variant is implicated in both of the diseases associated with SGCD, limb-girdle muscular dystrophy, type 2F (LGMD2F) and dilated cardiomyopathy 1L (CMD1L). Cardiac-specific or conditional expression of the S151A variant in adult flies results in progressive deterioration in cardiac function (see FBhh0000162). See the 'Disease-Implicated Variants' table below.
[updated Apr. 2022 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, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6; LGMDR6](https://omim.org/entry/601287)
[SARCOGLYCAN, DELTA; SGCD](https://omim.org/entry/601411)
Many to one: 3 human to 1 Drosophila; the fly gene Scgδ is orthologous to SGCD, SGCG and SGCZ in human.
Many to one: 3 human to 1 Drosophila; the fly gene Scgδ is orthologous to SGCD, SGCG and SGCZ in human.
