Journal article
Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene
Child neurology open, Vol.9
11/16/2022
DOI: 10.1177/2329048X221140298
PMCID: PMC9677140
PMID: 36419651
Abstract
Dysferlinopathies are a group of phenotypically heterogeneous disorders caused by pathogenic variants in the DYSF (DYStrophy-associated Fer-1-like) gene encoding dysferlin. The phenotypic spectrum includes Miyoshi muscular dystrophy (MMD), limb-girdle muscular dystrophy type R2, distal myopathy with anterior tibial onset, and isolated hyperCKemia. MMD is characterized by muscle weakness and atrophy predominantly affecting the calf muscles with symptoms onset between 14 and 40 years of age. There is no clear phenotype – genotype correlation for dysferlinopathy. We describe a 15-year-old girl who presented with a phenotype consistent with MMD. However, she was initially treated for presumed polymyositis without improvement. Subsequent genetic testing revealed two novel variants in DYSF: c.3225dup (p.Gly1076Trpfs*38) in exon 30 and c.3349-2A > G (Splice acceptor) in intron 30. No dysferlin was detected in a muscle biopsy using immunostains and western blots, a result consistent with dysferlinopathy that supports the pathogenicity of the DYSF variants.
Details
- Title: Subtitle
- Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene
- Creators
- Grace BryantSteven A. MooreJames S. NixGrace RiceMurat GokdenAravindhan Veerapandiyan
- Resource Type
- Journal article
- Publication Details
- Child neurology open, Vol.9
- DOI
- 10.1177/2329048X221140298
- PMID
- 36419651
- PMCID
- PMC9677140
- NLM abbreviation
- Child Neurol Open
- ISSN
- 2329-048X
- eISSN
- 2329-048X
- Publisher
- SAGE Publications
- Language
- English
- Date published
- 11/16/2022
- Academic Unit
- Pathology
- Record Identifier
- 9984315560502771
Metrics
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