Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review

Dysferlinopathy covers a spectrum of muscle disorder categorized by two major phenotypes, namely Miyoshi muscular dystrophy type 1 (MMD1, OMIM #254130) and limb-girdle muscular dystrophy autosomal recessive 2 (LGMDR2, OMIM #253601), and two minor symptoms, including asymptomatic hyperCKemia and dist...

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Detalles Bibliográficos
Autores principales: Park, Joonhong, Moon, Young Jae, Kim, Dal Sik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859596/
https://www.ncbi.nlm.nih.gov/pubmed/36672942
http://dx.doi.org/10.3390/genes14010200

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859596/
https://www.ncbi.nlm.nih.gov/pubmed/36672942
http://dx.doi.org/10.3390/genes14010200

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