Asymmetric scapuloperoneal phenotype of matr3-related distal myopathy: case series

HIGHLIGHTS

• What: The authors present a case series of distal myopathy associated with the heterozygous previously reported p.S85C variant in the MATR3 gene.
• Who: Massimiliano Filosto and colleagues from the University of Brescia, Italy have published the Article: Asymmetric scapuloperoneal phenotype of -related distal myopathy: case series, in the Journal: (JOURNAL)

SUMMARY

Heterozygous variants in the MATR3 gene cause amyotrophic lateral sclerosis (ALS) type 21 and distal myopathy with vocal cord and pharyngeal weakness (VCPDM) inherited in autosomal dominant manner (Senderek et_al, 2009; Johnson et_al, 2014). The MATR3 gene encodes matrin . . .

 



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