Novel Mutation in Anoctamin 5 Gene Causing Limb-Girdle Muscular Dystrophy 2L.
J Clin Neuromuscul Dis
; 19(4): 228-231, 2018 Jun.
Article
em En
| MEDLINE
| ID: mdl-29794579
ABSTRACT
We report a 49-year-old man who presented with a history of asymmetric weakness. His neurological examination and electromyogram testing suggested the presence of a myopathy. A muscle biopsy confirmed the presence of a myopathy with several lobulated, whorled and ring fibers, and it showed no evidence of inflammation. Genetic testing of more than 50 genes known to cause myopathy was performed and demonstrates the presence of the common founder mutation in ANO5 gene c.191dupA, which he inherited from his unaffected father. In addition, he inherited a novel mutation, c.1063C>T (p.L355F) in exon 11 of ANO5 gene from his unaffected mother. The founder mutation is a known pathogenic variant and, based on our protein modeling analysis, the novel c.1063C>T (p.L355F) variant is likely pathogenic. This indicates that he is a compound heterozygote, providing strong support for the diagnosis of limb-girdle muscular dystrophy 2L.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofia Muscular do Cíngulo dos Membros
/
Anoctaminas
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
J Clin Neuromuscul Dis
Ano de publicação:
2018
Tipo de documento:
Article