Key result
Miyoshi myopathy and limb-girdle muscular dystrophy 2B phenotypes showed no significant differences in disease progression, prognosis, genotype, or MRI pattern of muscle involvement.
Why the study?
Do clinical or MRI markers differentiate phenotypes of dysferlin myopathy (LGMD2B vs Miyoshi myopathy)?
Population
29 patients with confirmed mutations in the DYSF gene
Design
Cohort
Follow-up
mean 6.4 +/- 5.7 years
Authors
Loading...
Clinical distinction of Miyoshi myopathy from LGMD2B lacks support by progression or MRI; supports unified dysferlin myopathy classification but remains hypothesis-generating.
Observational (n=29)
Do clinical or MRI markers differentiate phenotypes of dysferlin myopathy (LGMD2B vs Miyoshi myopathy)?
Splitting dysferlin myopathy into separate phenotypes (MM and LGMD2B) is not supported by clinical progression or MRI patterns, favoring grouping them under dysferlin myopathy.
Paradas et al. (2010) conducted an observational in Dysferlin myopathy (n=29). Miyoshi myopathy (MM) phenotype vs. Limb-girdle muscular dystrophy 2B (LGMD2B) phenotype was evaluated on Rate of progression, functional prognosis, mutations, and MRI pattern of muscle involvement. Miyoshi myopathy and limb-girdle muscular dystrophy 2B phenotypes showed no significant differences in disease progression, prognosis, genotype, or MRI pattern of muscle involvement.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: