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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
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