RESUMO
Limb-girdle muscular dystrophy 1A (LGMD1A [MIM 159000]) is an autosomal dominant form of muscular dystrophy characterized by adult onset of proximal weakness progressing to distal muscle weakness. We have reported elsewhere a mutation in the myotilin gene in a large, North American family of German descent. Here, we report the mutation screening of an additional 86 families with a variety of neuromuscular pathologies. We have identified a new myotilin mutation in an Argentinian pedigree with LGMD1 that is predicted to result in the conversion of serine 55 to phenylalanine (S55F). This mutation has not been found in 392 control chromosomes and is located in the unique N-terminal domain of myotilin, only two residues from the T57I mutation reported elsewhere. Both T57I and S55F are located outside the alpha-actinin and gamma-filamin binding sites within myotilin. The identification of two independent pedigrees with the same disease, each bearing a different mutation in the same gene, has long been the gold standard for establishing a causal relationship between defects in a gene and the resultant disease. As a description of the second known pedigree with LGMD1A, this finding constitutes that gold standard of proof that mutations in the myotilin gene cause LGMD1A.
Assuntos
Proteínas Musculares/genética , Distrofias Musculares/classificação , Distrofias Musculares/genética , Mutação de Sentido Incorreto/genética , Argentina , Conectina , Proteínas do Citoesqueleto , Análise Mutacional de DNA , Feminino , Genótipo , Humanos , Masculino , Proteínas dos Microfilamentos , Dados de Sequência Molecular , Linhagem , FenótipoRESUMO
Los ataques de vértigo de corta duración pueden ser de etiología vascular. El vértigo puede ocurrir acompa±ado de síntomas de tronco cerebral o cerebeloso, o puede producirse aisladamente. Aqui reportamos el caso de una mujer de 78 a±os de eda, hipertensa que comienza con vértigo agudo e hipoacusia en iodo derecho, sugestivo de disfunción véstibular periférica. La RNM de cerebro muestra una lesión isquémica en el péndiulo cerebeloso medio derecho, en el territorio de la arteria cerebelosa antero inferior. Concluimos que la combinación de s´ntomas vestibulares periférico y centrales provee la clave diagnóstica en el infarto de arteria cerebelosa antero inferior. (AICA: Antero Inferior Cerebellar Artery)ASTRACTS: Vertigo attacks af short duration may be of vascular etiology. This kind of vertigo may occur along with symptoms of brainstem or cerebellar dysfuntion or can be isolated. We report a 78 year old hypertensive woman, with the sudden onset of vertigo and right ear deafness, suggesting peripheral vestibulat disease. An MRI study disclosed and ischemic lesion in the right middle cerebellar peduncle, in the territory of the antero inferior cereballar artery (AICA). We conclude that a combination or peripheral and central vestibular symptoms provides the diagnostic clue to AICA infarction
Assuntos
Neurologia , OtolaringologiaRESUMO
Los ataques de vértigo de corta duración pueden ser de etiología vascular. El vértigo puede ocurrir acompa±ado de síntomas de tronco cerebral o cerebeloso, o puede producirse aisladamente. Aqui reportamos el caso de una mujer de 78 a±os de eda, hipertensa que comienza con vértigo agudo e hipoacusia en iodo derecho, sugestivo de disfunción véstibular periférica. La RNM de cerebro muestra una lesión isquémica en el péndiulo cerebeloso medio derecho, en el territorio de la arteria cerebelosa antero inferior. Concluimos que la combinación de s ntomas vestibulares periférico y centrales provee la clave diagnóstica en el infarto de arteria cerebelosa antero inferior. (AICA: Antero Inferior Cerebellar Artery)ASTRACTS: Vertigo attacks af short duration may be of vascular etiology. This kind of vertigo may occur along with symptoms of brainstem or cerebellar dysfuntion or can be isolated. We report a 78 year old hypertensive woman, with the sudden onset of vertigo and right ear deafness, suggesting peripheral vestibulat disease. An MRI study disclosed and ischemic lesion in the right middle cerebellar peduncle, in the territory of the antero inferior cereballar artery (AICA). We conclude that a combination or peripheral and central vestibular symptoms provides the diagnostic clue to AICA infarction