Nova apresentação fenotípica de rara variante de splicing na deficiência de laminina α2Nova apresentação fenotípica de rara variante de splicing na deficiência de laminina α2
DOI:
https://doi.org/10.11606/issn.1679-9836.v104i5e-227689Palavras-chave:
Distrofias musculares, Laminina, História natural, Variante de splicing proteicoResumo
A distrofia muscular congênita com deficiência da subunidade laminina α2 é considerada a segunda maior causa de distrofias musculares congênitas, levando a deficiência de merosina juntamente com anomalias na matriz extracelular. Com autorização por meio de comitê de ética e de termo de consentimento livre e esclarecido, descreve-se o caso de um paciente de seis anos com distrofia muscular merosina negativa ocasionada por uma variante de splicing homozigótica vista apenas uma vez antes no Brasil, bem como uma apresentação clínica mais branda frente aos demais casos descritos na literatura, indicando um bom prognóstico. Enfatiza-se a importância deste relato para melhor compreender as correlações genótipo-fenótipo em pacientes com distrofia muscular com deficiência de laminina α2.
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Copyright (c) 2025 Dr. Giuliano da Paz Oliveira, Petrone Bandeira
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