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Archives de l'Institut Pasteur de Tunis, 2009
Congenital muscular dystrophies are a group of common genetically determined disorders often transmitted with a recessive mode of inheritance. In recent years, several deficiencies of proteins from the muscle membrane, extra cellular matrix, sarcomere, muscle cytosol and the nucleus have been described to cause CMD.
N, Louhichi +6 more
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Congenital muscular dystrophies are a group of common genetically determined disorders often transmitted with a recessive mode of inheritance. In recent years, several deficiencies of proteins from the muscle membrane, extra cellular matrix, sarcomere, muscle cytosol and the nucleus have been described to cause CMD.
N, Louhichi +6 more
openaire +1 more source
LAMC1, LAMA2 and LAMA3 gene polymorphisms and the risk for severe pelvic organ prolapse
Science Bulletin, 2019Lei, Li +8 more
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Analysis of LAMA2 Gene in Merosin-Deficient Congenital Dystrophy
2003Anne Helbling-Leclerc, Pascale Guicheney
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Single and Double AAV Somatic Gene Amelioration of Mouse Models of LAMA2 Related Dystrophy
Laminin-211 (Lm211) is an ~800kDa glycoprotein of neuromuscular basement membranes (BMs) required for BM assembly, structure and functions. Missense and truncating mutations of the LAMA2 gene cause a congenital muscular dystrophy and neuropathy (LAMA2-Related Dystrophy, MDC1A).openaire +1 more source
06VP In vivo modulation of novel modifier genes for LAMA2-RD
Neuromuscular DisordersV. Pini +6 more
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Mutations in the LAMA2 gene in patients with muscular dystrophy due to partial merosin deficiency
Neuromuscular Disorders, 1997I. Naom +6 more
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