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- Stewart, H GUmeå universitet,Klinisk kemi,Klinisk neurovetenskap (author)
Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy.
- Article/chapterEnglish2006
Publisher, publication year, extent ...
- 2006
- Wiley,2006
- printrdacarrier
Numbers
- LIBRIS-ID:oai:DiVA.org:umu-15416
- https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-15416URI
- https://doi.org/10.1002/mus.20495DOI
Supplementary language notes
- Language:English
- Summary in:English
Part of subdatabase
- SwePubSwePub
Classification
Notes
- A 71-year-old woman with a family history of amyotrophic lateral sclerosis (ALS) was investigated for symmetrical, proximal limb and abdominal muscle weakness. Initial examination showed mild proximal muscle weakness in the arms and legs, slightly elevated serum creatine kinase (CK) level, and normal electromyographic (EMG) findings. A myopathy was the presumed diagnosis. Over the next year, weakness became severe and tendon reflexes became unelicitable; no upper motor signs were present. EMG then showed acute and chronic denervation and a muscle biopsy showed target fibers and grouped atrophy. DNA analysis revealed a G72C CuZn-superoxide dismutase (SOD1) mutation. Fasciculations were absent throughout the disease. The patient died 53 months after symptom onset and autopsy revealed loss of lower motor neurons (LMN) and SOD1-positive inclusions. This case expands the phenotypic spectrum of ALS associated with SOD1 mutations to include presenting features that mimic a myopathy.
Subject headings and genre
- Aged
- Amyotrophic Lateral Sclerosis/complications/*genetics/pathology
- Blotting; Western/methods
- Creatine/blood
- Cysteine/*genetics
- DNA Mutational Analysis/methods
- Family Health
- Female
- Glycine/*genetics
- Humans
- Immunohistochemistry/methods
- Muscular Diseases/etiology/*genetics/pathology
- Mutation
- Myosins/metabolism
- NAD/metabolism
- Phenotype
- Superoxide Dismutase/*genetics/metabolism
- Ubiquitin/metabolism
Added entries (persons, corporate bodies, meetings, titles ...)
- Mackenzie, I R (author)
- Eisen, A (author)
- Brännström, ThomasUmeå universitet,Patologi(Swepub:umu)thbr0001 (author)
- Marklund, StefanUmeå universitet,Klinisk kemi(Swepub:umu)stma0003 (author)
- Andersen, P MUmeå universitet,Klinisk neurovetenskap (author)
- Umeå universitetKlinisk kemi (creator_code:org_t)
Related titles
- In:Muscle and Nerve: Wiley33:5, s. 701-7060148-639X1097-4598
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- Stewart, H G
- Mackenzie, I R
- Eisen, A
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- Marklund, Stefan
- Andersen, P M
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- Umeå University
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