Key result
Among 28 Indian patients with dysferlinopathy, 43% presented with Miyoshi myopathy and 43% with LGMD2B, characterized by early adulthood onset and markedly elevated serum creatine kinase levels.
Population
28 patients with dysferlin deficiency confirmed by muscle immunohistochemistry, presenting with…
Design
Case_series
Follow-up
Mean duration of illness 6.4 ± 4.2 years
Authors
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May aid recognition of dysferlinopathy in Indian patients with early-adult myopathy and high CK; leaves open regional prevalence and modifiers.
Observational (n=28)
No
Dysferlinopathy is a relatively common form of LGMD in India, presenting with marked phenotypic heterogeneity including Miyoshi myopathy and LGMD2B.
Nalini et al. (2008) conducted an observational in Dysferlinopathy (n=28). Dysferlin deficiency was evaluated on Clinical and histopathological characteristics. Among 28 Indian patients with dysferlinopathy, 43% presented with Miyoshi myopathy and 43% with LGMD2B, characterized by early adulthood onset and markedly elevated serum creatine kinase levels.
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