Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
Background Limb-girdle muscular dystrophy type R1 (LGMDR1) can be caused by
recessive CAPN3 mutations accounting for the majority of LGMD. To date, no systemic …
recessive CAPN3 mutations accounting for the majority of LGMD. To date, no systemic …
TREAT-NMD stakeholder meeting for natural history studies in limb girdle muscular dystrophy 18th June 2019, Amsterdam, The Netherlands
M Guglieri, J Díaz-Manera, V Straub - Neuromuscular Disorders, 2021 - Elsevier
Limb girdle muscular dystrophies (LGMD) are a group of rare genetic disorders
characterized by slowly progressive weakness leading to variable degrees of disability …
characterized by slowly progressive weakness leading to variable degrees of disability …
Distrofia muscular de cinturas-doença rara desafiadora para o médico e para o paciente
JSI Hora, IOC Rangel, PAV Rodas… - Acta …, 2022 - revistas.usp.br
óssea em 5 anos.7 Embora a preocupação com a potencial sobrecarga hepática do uso de
um EAA oral como a oxandrolona sempre t Page 1 Acta Fisiatr. 2022;29(Suplemento 1):S1-S73 …
um EAA oral como a oxandrolona sempre t Page 1 Acta Fisiatr. 2022;29(Suplemento 1):S1-S73 …
Calpaïnopathies-État des lieux et perspectives thérapeutiques
E Malfatti, I Richard - médecine/sciences, 2020 - medecinesciences.org
Les calpaïnopathies sont des dystrophies musculaires des ceintures héréditaires, le plus
souvent avec une transmission autosomique récessive (AR). Des formes autosomiques …
souvent avec une transmission autosomique récessive (AR). Des formes autosomiques …