Muscle Phenotypic Variability in Limb Girdle Muscular Dystrophy 2 G
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- 作者：Julia F. Paim (1)
Ana Cotta (1)
Antonio P. Vargas (2)
Monica M. Navarro (3)
Jaquelin Valicek (4)
Elmano Carvalho (4)
Antonio L. da-Cunha-Junior (5)
Estev?o Plentz (6)
Shelida V. Braz (7)
Reinaldo I. Takata (8)
Camila F. Almeida (9)
Mariz Vainzof (9) - 关键词：Limb girdle muscular dystrophy ; Telethonin ; LGMD2G ; Nemaline rods ; Paracrystalline inclusions
- 刊名：Journal of Molecular Neuroscience
- 出版年：2013
- 出版时间：June 2013
- 年：2013
- 卷：50
- 期：2
- 页码：339-344
- 全文大小：517KB
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Ana Cotta (1)
Antonio P. Vargas (2)
Monica M. Navarro (3)
Jaquelin Valicek (4)
Elmano Carvalho (4)
Antonio L. da-Cunha-Junior (5)
Estev?o Plentz (6)
Shelida V. Braz (7)
Reinaldo I. Takata (8)
Camila F. Almeida (9)
Mariz Vainzof (9)
1. Surgical Pathology Department, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil
2. Neurology Department, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil
3. Pediatric and Genetics Departments, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil
4. Neurophysiology Department, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil
5. Radiology Department, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil
6. Plastic Surgery Department, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil
7. Electron Microscopy Department, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil
8. Molecular Biology Department, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil
9. Human Genome Research Center, University of S?o Paulo, Rua do Mat?o Travessa 13, n° 106, Sao Paulo, SP, 05508-090, Brazil
文摘
Limb girdle muscular dystrophy type 2?G (LGMD2G) is caused by mutations in the telethonin gene. Only few families were described presenting this disease, and they are mainly Brazilians. Here, we identified one additional case carrying the same common c.157C > T mutation in the telethonin gene but with an atypical histopathological muscle pattern. In a female patient with a long duration of symptoms (46?years), muscle biopsy showed, in addition to telethonin deficiency, the presence of nemaline rods, type 1 fiber predominance, nuclear internalization, lobulated fibers, and mitochondrial paracrystalline inclusions. Her first clinical signs were identified at 8?years old, which include tiptoe walking, left lower limb deformity, and frequent falls. Ambulation loss occurred at 41?years old, and now, at 54?years old, she presented pelvic girdle atrophy, winging scapula, foot deformity with incapacity to perform ankle dorsiflexion, and absent tendon reflexes. The presence of nemaline bodies could be a secondary phenomenon, possibly associated with focal Z-line abnormalities of a long-standing disease. However, these new histopathological findings, characteristic of congenital myopathies, expand muscle phenotypic variability of telethoninopathy.