Key result
Dysferlin gene mutations present a heterogeneous phenotypic spectrum, with only 20 (50%) patients showing typical Miyoshi myopathy or limb-girdle muscular dystrophy type 2B.
Why the study?
What is the phenotypic spectrum of dysferlin gene mutations in patients with dysferlin protein deficiency?
Population
40 patients with a dysferlin protein deficiency confirmed by mutational screening of the DYSF gene
Design
Case_series
Authors
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May prompt dysferlin testing in atypical myopathies; leaves open precise genotype-phenotype correlations.
Observational (n=40)
Yes
What is the phenotypic spectrum of dysferlin gene mutations in patients with dysferlin protein deficiency?
Dysferlinopathies present with a heterogeneous clinical spectrum beyond typical Miyoshi myopathy and LGMD2B, including proximodistal, pseudometabolic, and asymptomatic phenotypes.
Nguyen et al. (2007) conducted an observational in Dysferlin gene mutations (dysferlinopathies) (n=40). Dysferlin gene mutations present a heterogeneous phenotypic spectrum, with only 20 (50%) patients showing typical Miyoshi myopathy or limb-girdle muscular dystrophy type 2B.
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