Myofibrillar myopathy type 8 with a PYROXD1 variant can mimic limb-girdle muscular dystrophy with moderate deficit and slow progression, complicating diagnosis due to phenotypic variability.
This first Tunisian case report highlights that MFM type 8 can present with a phenotype mimicking Limb-Girdle Muscle Dystrophy, complicating diagnosis.
Tasa de eventos absoluta: 0% vs 0%
We reported the first Tunisian case of MFM type 8 associated with a well-known pathogenic variant in the PYROXD1 gene. This case mimics LGMD with a moderate deficit and slow progression. MFM type 8 can present with different phenotypes, making the diagnosis difficult.
Majoul et al. (Sun,) reported a other. Myofibrillar myopathy type 8 with a PYROXD1 variant can mimic limb-girdle muscular dystrophy with moderate deficit and slow progression, complicating diagnosis due to phenotypic variability.