A Sri Lankan boy with Emery-Dreifuss muscular dystrophy 5 presenting during infancy with persistent transaminitis

Abstract Background Emery-Dreifuss muscular dystrophy is a rare muscular dystrophy characterised by muscle weakness, joint contractures, and cardiac involvement. Among its subtypes, Emery-Dreifuss muscular dystrophy 5 typically presents with muscle weakness and cardiomyopathy during late childhood....

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Detalhes bibliográficos

Principais autores:	Sachith Mettananda, Thakshila Vipulanayake, Gihani Dineshika, Tharindi Suriapperuma, Manissha Rajeindran, Padmapani Padeniya
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-10-01
coleção:	BMC Pediatrics
Assuntos:	Emery-Dreifuss muscular dystrophy Muscular dystrophy Myopathy Transaminitis Creatine phosphokinase
Acesso em linha:	https://doi.org/10.1186/s12887-025-06225-z
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