Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in ...

• Autor(es): Negrão, L ; Matos, A ; Geraldo, A ; Rebelo, O
• Data: 2010
• Identificador Persistente: http://hdl.handle.net/10400.4/1136
• Origem: Repositório do Centro Hospitalar e Universitário de Coimbra
• Assunto(s): Distrofia Muscular do Tipo Cinturas
• Tipo de Documento: Artigo
• Idioma: Inglês

Descrição

Limb-girdle muscular dystrophy 2G is caused by mutations in the telethonin (TCAP) gene in chromosome 17q11-12. This rare form of hereditary muscle disease was originally described in Brazilian patients and was recently identified in Chinese and Moldavian patients. We present the first Portuguese patient with a limb-girdle muscular dystrophy caused by a mutation in the TCAP gene. A Caucasian male, 50 years old, presented in his early twenties, slowly progressive weakness in upper and lower limbs. Neurologic examination revealed severe atrophy and weakness in the muscles of the arms, thighs and legs' anterior compartment. Muscle MRI of the thighs and legs revealed severe atrophy of all the muscles of the thighs and legs' anterolateral compartment, in a symmetrical way. Molecular studies identified the homozygous c.157C > T (p.Gln53X) mutation in exon 2 of the TCAP gene, already described in Brazilian patients.