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Progress of Spinal muscular atrophy with respiratory distress type 1 / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics ; (24): 1187-1190, 2014.
Artículo en Chino | WPRIM | ID: wpr-453735
ABSTRACT
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease.It is caused by mutations in the gene immunoglobulin μ-binding protein 2 which resides on chromosome 11 q13.3 and encodes the immunoglobulin μ-binding protein 2.This disorder is characterized by degeneration of anterior horn α-motoneurons and manifesting as irreversible diaphragmatic paralysis,respiratory distress associated with progressive symmetrical muscular weakness,distal lower limbs mainly involved,and muscle atrophy between the first 6 weeks and 6 months of life.Overall,SMARD1 is a poor-prognosis disease that artificial ventilation is needed for the whole life.

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Idioma: Chino Revista: Chinese Journal of Applied Clinical Pediatrics Año: 2014 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Idioma: Chino Revista: Chinese Journal of Applied Clinical Pediatrics Año: 2014 Tipo del documento: Artículo