A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study

Abstract Background SELENON-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive axial muscle weakness, rigidity of the spine, scoliosis, and respiratory insufficiency. Laminin-a2-related muscular dystrophy (LAMA2-MD) has a similar clinical phenotype, which...

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Autors principals:	E. C. M. de Laat, S.L.S. Houwen- van Opstal, K. Bouman, J. L. M. van Doorn, D. Cameron, N. van Alfen, A. T. M. Dittrich, E. J. Kamsteeg, H. J. M. Smeets, J. T. Groothuis, C. E. Erasmus, Nicol C. Voermans
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2024-10-01
Col·lecció:	BMC Neurology
Matèries:	SELENON SEPN1 LAMA2 Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) Natural history Follow-up
Accés en línia:	https://doi.org/10.1186/s12883-024-03852-4
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