Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient
| Autor: | Jennifer Gass, Duygu Selcen, Kimberly J. Harris, Elliot L. Dimberg, Jessica Jackson, Paldeep S. Atwal, Patrick R. Blackburn |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Weakness Pathology medicine.medical_specialty distal myopathy medicine.disease_cause whole exome sequencing 03 medical and health sciences 0302 clinical medicine TIA-1 medicine Humans Exome Genetic Testing Welander distal myopathy Exome sequencing Genetic testing Mutation medicine.diagnostic_test business.industry Electrodiagnosis Muscle weakness General Medicine Case Review Middle Aged Muscle atrophy Distal Myopathies Muscular Atrophy 030104 developmental biology Neurology next-generation sequencing Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Clinical Neuromuscular Disease |
| ISSN: | 1522-0443 |
| DOI: | 10.1097/cnd.0000000000000164 |
| Popis: | Welander distal myopathy is a rare autosomal dominant disorder characterized by muscle weakness in the hands and feet. Exome sequencing of affected families discovered a segregating p.Glu384Lys pathogenic variant in TIA-1 as the main genetic cause of Welander distal myopathy. TIA-1 encodes an RNA-binding protein which serves as a key component of stress granules. This protein also regulates splicing and translation of mRNA. Our patient developed progressive weakness in his hands and feet during his late 40s that was misdiagnosed as a neuropathy that caused muscle atrophy. Follow-up genetic testing revealed a p.Glu384Lys pathogenic variant in TIA-1, and he was then diagnosed with Welander distal myopathy. Our case report underlines the importance of electrodiagnostic and genetic testing of patients. |
| Databáze: | OpenAIRE |
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