From: A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies
Genetic diagnosis | Number of families (n = 50) | Inheritance |
---|---|---|
Dyspherlinopathy | 10 (20Â %) | AR |
Calpainopathy | 8 (16Â %) | AR |
Dystroglycenopathy (type C) | 7 (14Â %) | AR |
α-Sarcoglyconapthy | 5 (10 %) | AR |
β-Sarcoglyconapthy | 1 (2 %) | AR |
Dystroglycenopathy (type B) | 1 (2Â %) | AR |
Anoctaminopathy | 1 (2Â %) | AR |
Congenital disorder of glycosylation | 1 (2Â %) | AR |
Rigid spine muscular dystrophy | 1 (2Â %) | AR |
Nonaka myopathy | 1 (2Â %) | AR |
Neuropathy | 1 (2Â %) | AR |
Limb-girdle muscular dystrophy, type 1E | 1 (2Â %) | AD |
Undiagnosed | 12 (24Â %) | Â |