Muscle Phenotypic Variability in Limb Girdle Muscular Dystrophy 2 G

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...

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Bibliographic Details
Published in:Journal of molecular neuroscience 2013-06, Vol.50 (2), p.339-344
Main Authors: Paim, Julia F., Cotta, Ana, Vargas, Antonio P., Navarro, Monica M., Valicek, Jaquelin, Carvalho, Elmano, da-Cunha-Junior, Antonio L., Plentz, Estevão, Braz, Shelida V., Takata, Reinaldo I., Almeida, Camila F., Vainzof, Mariz
Format: Article
Language:English
Subjects:
Atrophy
Biomedical and Life Sciences
Biomedicine
Biopsy
Cell Biology
Child
Congenital diseases
Connectin - genetics
Electrocardiography
Female
Humans
Kinases
Mitochondria - ultrastructure
Muscle Fibers, Skeletal - pathology
Muscle strength
Muscular Dystrophies, Limb-Girdle - diagnosis
Muscular Dystrophies, Limb-Girdle - genetics
Muscular dystrophy
Mutation
Neurochemistry
Neurology
Neurosciences
Patients
Phenotype
Polymorphism, Single Nucleotide
Proteins
Proteomics
Rehabilitation
Sarcolemma - ultrastructure
Transmission electron microscopy
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Summary: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.
ISSN:0895-8696
1559-1166
DOI:10.1007/s12031-013-9987-6