Dysferlinopathies
Evidence-based neurology checklist on dysferlinopathies: Genetics These are caused by mutations in the DYSF genes on chromosome 2p The genes encode the dysferlin skeletal muscle protein The transmission is autosomal recessive LGMD2B and Miyoshi myopathy are allelic: both may occur in the same…
Genetics
- These are caused by mutations in the DYSF genes on chromosome 2p
- The genes encode the dysferlin skeletal muscle protein
- The transmission is autosomal recessive
- LGMD2B and Miyoshi myopathy are allelic: both may occur in the same family
Typical phenotypes
Atypical phenotypes
Onset features
Clinical features
Creatinine kinase (CK)
Differential diagnosis
Muscle biopsy
Genetic investigations
References
- Harris E, Bladen CL, Mayhew A, et al; Jain COS Consortium. The Clinical Outcome Study for dysferlinopathy: An international multicenter study. Neurol Genet 2016; 2:e89.
- Nalini A, Gayathri N. Dysferlinopathy: a clinical and histopathological study of 28 patients from India. Neurol India 2008; 56:379-385.
- Ivanova A, Smirnikhina S, Lavrov A. Dysferlinopathies: Clinical and genetic variability. Clin Genet 2022; 102:465-473.
- Nguyen K, Bassez G, Krahn M, et al. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 2007; 64:1176-1182.
- Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N. Dysferlinopathies. Neurol India 2008; 56:289-297.
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