[Familiar chronic progressive external ophthalmoplegia of mitochondrial origin]. / Oftalmoplejía crónica progresiva externa familiar de origen mitocondrial.

INTRODUCTION: The syndrome of chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by ptosis and ophthalmoplegia has that has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle. CASE REPORT: We report a familiar case of chronic progressive external ophthalmoplegia of maternal inheritance that began at birth, and developed with slow progression but with no multisystemic involvement. Non of the affected individuals had ragged-red fibers in skeletal muscle. Genetic analysis of mitochondrial DNA revealed the presence of a single deletion of 4,977 bp that encompasses the nucleotide positions 8,482 to 13,460, flanked by a direct repeat sequence. CONCLUSIONS: The amount of deleted mitochondrial DNA (15%) in this patient's muscle suggests, even if the percentage of the mutation is low, that this deletion is the molecular cause of the phenotypic presentation of this patient. This is one of the few cases described in the literature of CPEO maternally inherited.

Oftalmoplejía crónica progresiva externa familiar de origen mitocondrial / Familiar chronic progressive external ophthalmoplegia of mitochondrial origin

Introducción. El síndrome de oftalmoplejía crónica progresiva externa (CPEO) es una enfermedad mitocondrial caracterizada por ptosis palpebral bilateral y parálisis de la musculatura oculomotora, que se ha asociado a la presencia de grandes deleciones, únicas o múltiples, en el ADN mitocondrial (ADNmt) del tejido muscular. Caso clínico. Presentamos un caso familiar de CPEO de herencia materna que comenzó desde el nacimiento, tanto en la madre como en el hijo, y que se desarrolló progresivamente sin afectación multisistémica. Ninguno de los afectados presenta fibras rojas rasgadas en el músculo esquelético. El análisis genético mostró la presencia de una deleción única de 4.977 pares de bases, comprendida entre los nucleótidos 8.482 y 13.460, flanqueada por una repetición directa en el ADNmt del hijo. Conclusiones. A pesar del bajo porcentaje de moléculas de ADNmt con la deleción en el músculo ocular de esta paciente (15 por ciento), se sugiere que dicha deleción es la causa molecular de su presentación fenotípica. Éste es uno de los pocos casos de CPEO de herencia materna (AU)

Introduction. The syndrome of chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by ptosis and ophthalmoplegia that has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle. Case report. We report a familiar case of chronic progressive external ophthalmoplegia of maternal inheritance that began at birth, and developed with slow progression but with no multisistemic involvement. Non of the affected individuals had ragged-red fibers in skeletal muscle. Genetic analysis of mitochondrial DNA revealed the presence of a single deletion of 4,977 bp that encompasses the nucleotide positions 8,482 to 13,460, flanked by a direct repeat sequence. Conclusions. The amount of deleted mitochondrial DNA (15%) in this patient’s muscle suggests, even if the percentage of the mutation is low, that this deletion is the molecular cause of the phenotypic presentation of this patient. This is one of the few cases described in the literature of CPEO maternally inherited (AU)

[A single deletion of mitochondrial DNA in a Brazilian patient with chronic progressive external ophthalmoplegia]. / Deleción en el ADN mitocondrial de una paciente brasileña con oftalmoplejía cróncia progresiva externa.

INTRODUCTION: The syndrome of chronic progressive external ophthalmoplegia (CPEO) has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle. CASE REPORT: We report a sporadic case of chronic progressive external ophthalmoplegia that began at age 19 years and was associated with ragged red fibers in skeletal muscle. Genetic analysis of mitochondrial DNA revealed the presence of a single deletion of 4237 bp that encompasses the nucleotide positions 9486 to 13722, a location that has not been described before, and flanked by a direct repeat sequence. The deletion is flanked by a direct repeat. CONCLUSIONS: The amount of deleted mitochondrial DNA (55%) in this patient's muscle suggests that this deletion is the molecular cause of the phenotypic presentation of this patient.

Deleción en el ADN mitocondrial de una paciente brasileña con oftalmoplejía crónica progresiva externa / A single deletion of mitocondrial DNA in a Brazilian patient with chronic progressive external ophthalmoplegia

Introducción. El síndrome de oftalmoplejía crónica progresiva externa (CPEO) se ha asociado a la presencia de grandes deleciones, únicas o múltiples, en el ADN mitocondrial (ADNmt) del tejido muscular esquelético. Caso clínico. Presentamos un caso esporádico de CPEO que comenzó a los 19 años de edad y que se asocia a la presencia de fibras rojas rasgadas en el músculo esquelético. El análisis genético del ADNmt mostró la presencia de una deleción única de 4.237 pb, comprendida entre los nucleótidos 9486 y 13722, y flanqueada por una repetición directa. Conclusiones. La cantidad de moléc ulas de ADNmt delecionadas en el músculo de esta paciente (55%) sugiere que esta deleción es la causa molecular de la presentación fenotípica de esta paciente (AU)

Introduction. The syndrome of chronic progressive external ophthalmoplegia (CPEO) has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle. Case report. We report a sporadic case of chronic progressive external ophthalmoplegia that began at age 19 years and was associated with ragged-red fibers in skeletal muscle. Genetic analysis of mitochondrial DNA revealed the presence of a single deletion of 4237 bp that encompasses the nucleotide positions 9486 to 13722, a location that has not been described before, and flanked by a direct repeat sequence. The deletion is flanked by a direct repeat. Conclusions. The amount of deleted mitochondrial DNA (55%) in this patient’s muscle suggests that this deletion is the molecular cause of the phenotypic presentation of this patient(AU)