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Table 2 Overview of the genetic diagnosis based on the neurological panel results

From: A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Genetic diagnosis

Number of families (n = 50)

Inheritance

Dyspherlinopathy

10 (20 %)

AR

Calpainopathy

8 (16 %)

AR

Dystroglycenopathy (type C)

7 (14 %)

AR

α-Sarcoglyconapthy

5 (10 %)

AR

β-Sarcoglyconapthy

1 (2 %)

AR

Dystroglycenopathy (type B)

1 (2 %)

AR

Anoctaminopathy

1 (2 %)

AR

Congenital disorder of glycosylation

1 (2 %)

AR

Rigid spine muscular dystrophy

1 (2 %)

AR

Nonaka myopathy

1 (2 %)

AR

Neuropathy

1 (2 %)

AR

Limb-girdle muscular dystrophy, type 1E

1 (2 %)

AD

Undiagnosed

12 (24 %)

 
  1. AR autosomal recessive, AD autosomal dominant