Distrofia muscular congénita: reporte de caso y revisión de la literatura

Guio, Johanna Carolina Acosta; Zarante, Ignacio

doi:10.11144/javeriana.umed51-4.dmcr

Cited by 1 publication

(1 citation statement)

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“…CMD1A prevalence is estimated at 1/30,000 and represents 30%-40% of all congenital muscular dystrophies, with some regional variation (Amin et al, 2019). CMD1A is not documented in Colombia except for the present case report and a previous case published in the city of Bogota diagnosed based on clinical, paraclinical, and imaging findings (Acosta Guío and Zarante Montoya, 2010). Therefore, epidemiologic data are unavailable in the country.…”

Section: Introductionmentioning

confidence: 60%

Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A

Diaz-Lombana,

Diaz-Ordoñez,

Gutierrez-Medina

et al. 2023

Front. Genet.

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Congenital muscular dystrophy type 1A (CMD1A) is a rare autosomal recessive disorder caused by mutations in the LAMA2 gene. CMD1A is characterized by peripheral hypotonia and muscle weakness from the first months of life, cerebral white matter abnormalities, and elevated creatine phosphokinase (CPK) levels. We describe an 8-year-old girl from Colombia with clinical features compatible with CMD1A, severe scoliosis corrected with surgery, and feeding difficulty corrected with a gastrostomy. Whole-exome sequencing identified two heterozygous variants: a reported nonsense variant (LAMA2 NM_000426.3:c.4198C>T) and a novel likely pathogenic variant (LAMA2 NM_000426.3:c.9227_9243dup). This is the first genetically confirmed case of CMD1A in Colombia and the first report of the c.9227_9243dup variant causing CMD1A.

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Section: Introductionmentioning

confidence: 60%