Abstract | BACKGROUND: OBJECTIVE: METHODS: The authors investigated 11 affected individuals from 5 unrelated families. Clinical, histopathologic, and imaging studies were performed and RYR1 haplotyping and mutational analysis were carried out. RESULTS: All patients had multiple cores involving the entire fiber diameter on longitudinal sections. Weakness and wasting in the shoulder girdle, scoliosis, moderate respiratory impairment, and feeding difficulties were prominent. In contrast to SEPN1-related myopathies, soleus was more severely affected than gastrocnemius on muscle MRI. Haplotyping suggested linkage to the RYR1 locus in informative families and mutational screening revealed four novel RYR1 mutations in three unrelated families; in addition, functional haploinsufficiency was found in one allele of two recessive cases. CONCLUSION:
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Authors | H Jungbluth, H Zhou, L Hartley, B Halliger-Keller, S Messina, C Longman, M Brockington, S A Robb, V Straub, T Voit, M Swash, A Ferreiro, G Bydder, C A Sewry, C Müller, F Muntoni |
Journal | Neurology
(Neurology)
Vol. 65
Issue 12
Pg. 1930-5
(Dec 27 2005)
ISSN: 1526-632X [Electronic] United States |
PMID | 16380615
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Genetic Markers
- Ryanodine Receptor Calcium Release Channel
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Topics |
- Adolescent
- Adult
- Biopsy
- Child
- Chromosomes, Human, Pair 19
(genetics)
- DNA Mutational Analysis
- Genetic Markers
- Genetic Predisposition to Disease
(genetics)
- Genetic Testing
- Haplotypes
- Humans
- Ligaments
(pathology, physiopathology)
- Middle Aged
- Muscle Fibers, Skeletal
(metabolism, pathology)
- Muscle Weakness
(genetics, pathology, physiopathology)
- Muscle, Skeletal
(metabolism, pathology, physiopathology)
- Muscular Atrophy
(genetics, pathology, physiopathology)
- Muscular Diseases
(genetics, pathology, physiopathology)
- Mutation
(genetics)
- Oculomotor Muscles
(metabolism, pathology, physiopathology)
- Ophthalmoplegia
(genetics, pathology, physiopathology)
- Pedigree
- Ryanodine Receptor Calcium Release Channel
(genetics)
- Syndrome
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