Clinical features of collagen VI-related dystrophies: A large Brazilian cohort.

Edmar Zanoteli, Priscilla Souza Soares,André Macedo Serafim da Silva,Clara Gontijo Camelo,Alulin Tácio Quadros Santos Monteiro Fonseca, Marco Antônio Veloso Albuquerque,Cristiane Araújo Martins Moreno,Osório Lopes Abath Neto,Gil Monteiro Novo Filho,Leslie Domenici Kulikowski,Umbertina Conti Reed

Clinical Neurology and Neurosurgery（2020）

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摘要

•Twenty-eight patients with collagen VI-related dystrophies (COL6-RDs) are presented.•This is the largest cohort of this myopathy in Latin America.•A large clinical variability was seen in this cohort of COL6-RDs.•Ullrich´s phenotype corresponded to 42,8 %; whereas, 25 % had Bethlem´s phenotype.•Homozygous or heterozygous variants were found in COL6A1, COL6A2 and COL6A3.

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关键词

Congenital muscular dystrophy,Collagen VI,COL6,Myopathy,Muscle biopsy

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