Dysferlinopathies
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Dysferlinopathies. These are caused by mutations in the DYSF genes on chromosome 2p. Fully referenced neurology checklist.
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
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Atypical phenotypes
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Onset features
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Clinical features
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Creatinine kinase (CK)
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Differential diagnosis
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Muscle biopsy
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Genetic investigations
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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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