Journal article
Early onset chromosome 14-linked distal myopathy (Laing)
Neuromuscular Disorders, Vol.12(4), pp.350-357
2002
Abstract
A dominantly inherited form of distal myopathy with onset in early childhood was first reported in a 4-generation Australian family in 1995. In the present report we provide further information on the clinical phenotype and natural history of this myopathy, and on the electromyogram and magnetic resonance imaging findings in affected individuals. The pattern of muscle involvement was similar to that in the ‘tibial’ forms of distal myopathy such as the Finnish (Udd) and Markesbery–Griggs types, with additional involvement of the finger extensors and of some more proximal limb and neck muscles. However, the age of onset was earlier than in these other myopathies and rimmed vacuoles were not found in biopsies from two affected individuals. Evidence of possible anticipation was found in one branch of the family. The gene locus for this myopathy had been mapped to 14q11.2–q13. The linkage region has been refined to a 24 cM region between D14S283 and D14S49 and mutations have been excluded in the PABP2 gene for oculopharyngeal muscular dystrophy which lies within this region.
Details
- Title
- Early onset chromosome 14-linked distal myopathy (Laing)
- Authors/Creators
- F.L. Mastaglia (Author/Creator) - The University of Western AustraliaB.A. Phillips (Author/Creator) - The University of MelbourneL.A. Cala (Author/Creator) - Sir Charles Gairdner HospitalC. Meredith (Author/Creator) - Edith Cowan UniversityS. Egli (Author/Creator) - The University of Western AustraliaP.A. Akkari (Author/Creator) - The University of Western AustraliaN.G. Laing (Author/Creator) - The University of Western Australia
- Publication Details
- Neuromuscular Disorders, Vol.12(4), pp.350-357
- Publisher
- Elsevier BV
- Identifiers
- 991005543671207891
- Copyright
- © 2002 Elsevier Science B.V.
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.255 Musculoskeletal Disorders
- 1.255.628 Duchenne Muscular Dystrophy
- Web Of Science research areas
- Clinical Neurology
- Neurosciences
- ESI research areas
- Neuroscience & Behavior