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Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus
- Source :
- Journal of the neurological sciences. 291(1-2)
- Publication Year :
- 2009
-
Abstract
- The broadwide spectrum of differential diagnoses of autosomal dominant muscular dystrophies in adults can be specified by additional features. The combination of late-onset muscular dystrophy, rimmed vacuoles and inclusion bodies in the muscle biopsy, and Paget's disease of bone suggests a mutation in the Valosin-containing protein gene (VCP, p97 or CDC48) even without dementia. We report on a German family with late-onset autosomal dominant muscular dystrophy starting in the pelvic girdle about age 40years, a subsequent rapidly-progressing course, high alkaline phosphatase and Paget's disease of bone. Clinical examination revealed no cognitive impairment. Histology showed myopathic changes with rimmed vacuoles and inclusion bodies on muscle biopsy. Mutations in VCP, filamin C, desmin, alphaB-crystallin, ZASP and myosin heavy chains 2 and 7 as well as the genes for facioscapulohumeral muscular dystrophy, Myotonic Dystrophy I and II, and LGMD1A-G were excluded by a combination of linkage analysis and direct sequencing. The family presented here suggests that a yet-unknown genetic defect can give rise to an autosomal dominant myopathy with Paget's disease but without dementia.
- Subjects :
- Adult
Male
medicine.medical_specialty
Valosin-containing protein
Cell Cycle Proteins
Myotonic dystrophy
Valosin Containing Protein
Internal medicine
Germany
medicine
Facioscapulohumeral muscular dystrophy
Humans
Family
Muscular dystrophy
Age of Onset
Myopathy
Muscle, Skeletal
Adenosine Triphosphatases
Leg
Muscle biopsy
biology
medicine.diagnostic_test
business.industry
Middle Aged
medicine.disease
Osteitis Deformans
Pedigree
Paget's disease of bone
Endocrinology
Phenotype
Neurology
Muscular Dystrophies, Limb-Girdle
Mutation
biology.protein
Female
Neurology (clinical)
medicine.symptom
business
Limb-girdle muscular dystrophy
Subjects
Details
- ISSN :
- 18785883
- Volume :
- 291
- Issue :
- 1-2
- Database :
- OpenAIRE
- Journal :
- Journal of the neurological sciences
- Accession number :
- edsair.doi.dedup.....1faf7409847163cfd902ccae5c7fe413